Canonical Allele Identifier: CA104504233
Gene: CAMK2D HGNC NCBI

Linked Data

dbSNP Id: rs17046113
gnomAD v2: 4-114425626-A-G
gnomAD v3: 4-113504470-A-G
gnomAD v4: 4-113504470-A-G
MyVariant Identifiers: chr4:g.114425626A>G (hg19) chr4:g.113504470A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.113504470A>G , CM000666.2:g.113504470A>G GRCh38
NC_000004.11:g.114425626A>G , CM000666.1:g.114425626A>G GRCh37
NC_000004.10:g.114645075A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000699047.1:c.985-1493T>C ENSP00000514099.1:n.985-1493T>C
ENST00000699048.1:c.1018-1493T>C ENSP00000514100.1:n.1018-1493T>C
ENST00000699372.1:c.*552-1493T>C ENSP00000514337.1:n.*552-1493T>C
ENST00000699373.1:c.982-1493T>C ENSP00000514338.1:n.982-1493T>C
ENST00000699374.1:c.982-1493T>C ENSP00000514339.1:n.982-1493T>C
ENST00000699375.1:c.1041+506T>C ENSP00000514340.1:n.1041+506T>C
ENST00000699376.1:c.1044+506T>C ENSP00000514341.1:n.1044+506T>C
ENST00000699377.1:c.*2174-3959T>C ENSP00000514342.1:n.*2174-3959T>C
ENST00000699378.1:c.982-3959T>C ENSP00000514343.1:n.982-3959T>C
ENST00000699379.1:c.982-1493T>C ENSP00000514344.1:n.982-1493T>C
ENST00000699380.1:c.985-1493T>C ENSP00000514345.1:n.985-1493T>C
ENST00000699381.1:c.985-1493T>C ENSP00000514346.1:n.985-1493T>C
ENST00000699382.1:c.982-1493T>C ENSP00000514347.1:n.982-1493T>C
ENST00000699415.1:n.846-3959T>C
ENST00000699416.1:c.*863-1493T>C ENSP00000514374.1:n.*863-1493T>C
ENST00000699417.1:c.982-3959T>C ENSP00000514375.1:n.982-3959T>C
ENST00000699418.1:c.1077+506T>C ENSP00000514376.1:n.1077+506T>C
ENST00000699419.1:c.1012+538T>C ENSP00000514377.1:n.1012+538T>C
ENST00000706055.1:c.1018-1493T>C ENSP00000516207.1:n.1018-1493T>C
ENST00000706056.1:c.1077+506T>C ENSP00000516208.1:n.1077+506T>C
ENST00000706057.1:c.1018-1493T>C ENSP00000516209.1:n.1018-1493T>C
ENST00000683023.1:c.985-3959T>C ENSP00000507073.1:n.985-3959T>C
ENST00000511664.6:c.1044+506T>C MANE Select ENSP00000425824.1:n.1044+506T>C
ENST00000296402.9:c.985-3959T>C ENSP00000296402.5:n.985-3959T>C
ENST00000342666.9:c.985-3959T>C ENSP00000339740.5:n.985-3959T>C
ENST00000379773.6:c.985-3959T>C ENSP00000369098.2:n.985-3959T>C
ENST00000394522.7:c.985-1493T>C ENSP00000378030.3:n.985-1493T>C
ENST00000394524.7:c.985-3959T>C ENSP00000378032.3:n.985-3959T>C
ENST00000505990.5:c.1044+506T>C ENSP00000424245.1:n.1044+506T>C
ENST00000508738.5:c.1017+3766T>C ENSP00000422566.1:n.1017+3766T>C
ENST00000509594.1:c.367-3962T>C ENSP00000423753.1:n.367-3962T>C
ENST00000511664.5:c.1044+506T>C ENSP00000425824.1:n.1044+506T>C
ENST00000513132.5:c.95-3959T>C
ENST00000514328.5:c.982-3959T>C ENSP00000423677.1:n.982-3959T>C
ENST00000515496.5:c.1017+3766T>C ENSP00000423482.1:n.1017+3766T>C
NM_001221.3:c.985-3959T>C NP_001212.2:n.985-3959T>C
NM_172114.1:c.985-1493T>C NP_742112.1:n.985-1493T>C
NM_172115.2:c.985-3959T>C NP_742113.1:n.985-3959T>C
NM_172127.2:c.985-3959T>C NP_742125.1:n.985-3959T>C
NM_172128.2:c.985-3959T>C NP_742126.1:n.985-3959T>C
NM_172129.1:c.1017+3766T>C NP_742127.1:n.1017+3766T>C
XM_005263251.3:c.1044+506T>C XP_005263308.1:n.1044+506T>C
XM_005263252.3:c.1044+506T>C XP_005263309.1:n.1044+506T>C
XM_005263253.3:c.1041+506T>C XP_005263310.1:n.1041+506T>C
XM_005263254.3:c.1041+506T>C XP_005263311.1:n.1041+506T>C
XM_005263255.3:c.985-1493T>C XP_005263312.1:n.985-1493T>C
XM_005263256.3:c.1044+506T>C XP_005263313.1:n.1044+506T>C
XM_005263257.3:c.982-1493T>C XP_005263314.1:n.982-1493T>C
XM_005263258.3:c.1044+506T>C XP_005263315.1:n.1044+506T>C
XM_005263260.3:c.982-3959T>C XP_005263317.1:n.982-3959T>C
XM_005263261.3:c.927+506T>C XP_005263318.1:n.927+506T>C
XM_006714329.2:c.985-1493T>C XP_006714392.1:n.985-1493T>C
XM_006714330.2:c.985-3959T>C XP_006714393.1:n.985-3959T>C
XM_011532289.1:c.1017+3766T>C XP_011530591.1:n.1017+3766T>C
XM_011532290.1:c.1014+3766T>C XP_011530592.1:n.1014+3766T>C
XM_011532291.1:c.1017+3766T>C XP_011530593.1:n.1017+3766T>C
XM_011532292.1:c.657+506T>C XP_011530594.1:n.657+506T>C
XM_011532293.1:c.1044+506T>C XP_011530595.1:n.1044+506T>C
XM_011532294.1:c.1041+506T>C XP_011530596.1:n.1041+506T>C
XM_011532295.1:c.1017+3766T>C XP_011530597.1:n.1017+3766T>C
XM_011532296.1:c.985-1493T>C XP_011530598.1:n.985-1493T>C
NM_001321566.1:c.985-1493T>C NP_001308495.1:n.985-1493T>C
NM_001321567.1:c.1044+506T>C NP_001308496.1:n.1044+506T>C
NM_001321568.1:c.1018-1493T>C NP_001308497.1:n.1018-1493T>C
NM_001321569.1:c.1044+506T>C NP_001308498.1:n.1044+506T>C
NM_001321570.1:c.1044+506T>C NP_001308499.1:n.1044+506T>C
NM_001321571.1:c.1044+506T>C NP_001308500.1:n.1044+506T>C
NM_001321572.1:c.1044+506T>C NP_001308501.1:n.1044+506T>C
NM_001321573.1:c.1018-1493T>C NP_001308502.1:n.1018-1493T>C
NM_001321574.1:c.982-3959T>C NP_001308503.1:n.982-3959T>C
NM_001321575.1:c.985-1493T>C NP_001308504.1:n.985-1493T>C
NM_001321576.1:c.982-3959T>C NP_001308505.1:n.982-3959T>C
NM_001321577.1:c.982-1493T>C NP_001308506.1:n.982-1493T>C
NM_001321578.1:c.397-1493T>C NP_001308507.1:n.397-1493T>C
NM_001321579.1:c.1044+506T>C NP_001308508.1:n.1044+506T>C
NM_001321580.1:c.1044+506T>C NP_001308509.1:n.1044+506T>C
NM_001321581.1:c.868-1493T>C NP_001308510.1:n.868-1493T>C
NM_001321582.1:c.1017+3766T>C NP_001308511.1:n.1017+3766T>C
NM_001321583.1:c.985-1493T>C NP_001308512.1:n.985-1493T>C
NM_001321584.1:c.982-1493T>C NP_001308513.1:n.982-1493T>C
NM_001321585.1:c.397-1493T>C NP_001308514.1:n.397-1493T>C
NM_001321586.1:c.1041+506T>C NP_001308515.1:n.1041+506T>C
NM_001321587.1:c.1018-1493T>C NP_001308516.1:n.1018-1493T>C
NM_001321588.1:c.982-1493T>C NP_001308517.1:n.982-1493T>C
NM_001321589.1:c.985-1493T>C NP_001308518.1:n.985-1493T>C
NM_001321590.1:c.985-1493T>C NP_001308519.1:n.985-1493T>C
NM_001321591.1:c.1018-1493T>C NP_001308520.1:n.1018-1493T>C
XM_005263253.4:c.1041+506T>C XP_005263310.1:n.1041+506T>C
XM_005263254.4:c.1041+506T>C XP_005263311.1:n.1041+506T>C
XM_006714330.3:c.985-3959T>C XP_006714393.1:n.985-3959T>C
XM_011532289.2:c.1017+3766T>C XP_011530591.1:n.1017+3766T>C
XM_011532290.2:c.1014+3766T>C XP_011530592.1:n.1014+3766T>C
XM_011532291.2:c.1017+3766T>C XP_011530593.1:n.1017+3766T>C
XM_011532292.2:c.657+506T>C XP_011530594.1:n.657+506T>C
XM_011532295.2:c.1017+3766T>C XP_011530597.1:n.1017+3766T>C
XM_017008672.2:c.985-1493T>C XP_016864161.1:n.985-1493T>C
XM_017008673.2:c.982-1493T>C XP_016864162.1:n.982-1493T>C
XM_017008674.2:c.1041+506T>C XP_016864163.1:n.1041+506T>C
XM_017008675.2:c.927+506T>C XP_016864164.1:n.927+506T>C
XM_017008676.1:c.927+506T>C XP_016864165.1:n.927+506T>C
XM_017008677.2:c.982-1493T>C XP_016864166.1:n.982-1493T>C
XM_017008678.2:c.982-3959T>C XP_016864167.1:n.982-3959T>C
NM_001321571.2:c.1044+506T>C MANE Select NP_001308500.1:n.1044+506T>C
NM_001221.4:c.985-3959T>C NP_001212.2:n.985-3959T>C
NM_001321566.2:c.985-1493T>C NP_001308495.1:n.985-1493T>C
NM_001321567.2:c.1044+506T>C NP_001308496.1:n.1044+506T>C
NM_001321568.2:c.1018-1493T>C NP_001308497.1:n.1018-1493T>C
NM_001321569.2:c.1044+506T>C NP_001308498.1:n.1044+506T>C
NM_001321570.2:c.1044+506T>C NP_001308499.1:n.1044+506T>C
NM_001321572.2:c.1044+506T>C NP_001308501.1:n.1044+506T>C
NM_001321573.2:c.1018-1493T>C NP_001308502.1:n.1018-1493T>C
NM_001321574.2:c.982-3959T>C NP_001308503.1:n.982-3959T>C
NM_001321575.2:c.985-1493T>C NP_001308504.1:n.985-1493T>C
NM_001321576.2:c.982-3959T>C NP_001308505.1:n.982-3959T>C
NM_001321577.2:c.982-1493T>C NP_001308506.1:n.982-1493T>C
NM_001321578.2:c.397-1493T>C NP_001308507.1:n.397-1493T>C
NM_001321579.2:c.1044+506T>C NP_001308508.1:n.1044+506T>C
NM_001321580.2:c.1044+506T>C NP_001308509.1:n.1044+506T>C
NM_001321581.2:c.868-1493T>C NP_001308510.1:n.868-1493T>C
NM_001321582.2:c.1017+3766T>C NP_001308511.1:n.1017+3766T>C
NM_001321583.2:c.985-1493T>C NP_001308512.1:n.985-1493T>C
NM_001321584.2:c.982-1493T>C NP_001308513.1:n.982-1493T>C
NM_001321585.2:c.397-1493T>C NP_001308514.1:n.397-1493T>C
NM_001321586.2:c.1041+506T>C NP_001308515.1:n.1041+506T>C
NM_001321587.2:c.1018-1493T>C NP_001308516.1:n.1018-1493T>C
NM_001321588.2:c.982-1493T>C NP_001308517.1:n.982-1493T>C
NM_001321589.2:c.985-1493T>C NP_001308518.1:n.985-1493T>C
NM_001321590.2:c.985-1493T>C NP_001308519.1:n.985-1493T>C
NM_001321591.2:c.1018-1493T>C NP_001308520.1:n.1018-1493T>C
NM_172128.3:c.985-3959T>C NP_742126.1:n.985-3959T>C
NM_172114.2:c.985-1493T>C NP_742112.1:n.985-1493T>C
NM_172115.3:c.985-3959T>C NP_742113.1:n.985-3959T>C
NM_172127.3:c.985-3959T>C NP_742125.1:n.985-3959T>C
NM_172129.2:c.1017+3766T>C NP_742127.1:n.1017+3766T>C
NM_001396964.1:c.985-1493T>C NP_001383893.1:n.985-1493T>C
NM_001396965.1:c.1017+3766T>C NP_001383894.1:n.1017+3766T>C
NM_001396966.1:c.1014+3766T>C NP_001383895.1:n.1014+3766T>C
NM_001396967.1:c.982-3959T>C NP_001383896.1:n.982-3959T>C
NM_001399855.1:c.1041+506T>C NP_001386784.1:n.1041+506T>C
NM_001399856.1:c.1041+506T>C NP_001386785.1:n.1041+506T>C
NM_001399857.1:c.1014+3766T>C NP_001386786.1:n.1014+3766T>C
NM_001399858.1:c.985-3959T>C NP_001386787.1:n.985-3959T>C
NM_001399859.1:c.868-3959T>C NP_001386788.1:n.868-3959T>C
NM_001399860.1:c.868-3959T>C NP_001386789.1:n.868-3959T>C
NM_001399861.1:c.868-3959T>C NP_001386790.1:n.868-3959T>C
NM_001399862.1:c.865-3959T>C NP_001386791.1:n.865-3959T>C
NM_001399863.1:c.657+506T>C NP_001386792.1:n.657+506T>C
NM_001399864.1:c.595-3959T>C NP_001386793.1:n.595-3959T>C
NM_001399865.1:c.397-3959T>C NP_001386794.1:n.397-3959T>C
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