Canonical Allele Identifier: CA367366362

Gene: CAMK2B

Linked Data

• ClinVar Variation Id: 430922
• ClinVar RCV Id: RCV000516163 ; RCV000577890 ; RCV000623203 ; RCV001003964 ; RCV001571738 ; RCV001814167
• dbSNP Id: rs1554389088
• gnomAD v4: 7-44243526-G-A
• MyVariant Identifiers: chr7:g.44283125G>A (hg19) ; chr7:g.44243526G>A (hg38)
• PubMed: PMID:11994750 ; PMID:28135719 ; PMID:29100083 ; PMID:29100089

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44243526G>A , CM000669.2:g.44243526G>A	GRCh38
NC_000007.13:g.44283125G>A , CM000669.1:g.44283125G>A	GRCh37
NC_000007.12:g.44249650G>A	NCBI36
NG_029407.1:g.87106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470984.6:c.29C>T	ENSP00000514879.1:p.Pro10Leu
ENST00000484972.6:n.489C>T
ENST00000495819.6:c.29C>T	ENSP00000514882.1:p.Pro10Leu
ENST00000700233.1:c.416C>T	ENSP00000514871.1:p.Pro139Leu
ENST00000700235.1:c.416C>T	ENSP00000514874.1:p.Pro139Leu
ENST00000700237.1:c.29C>T	ENSP00000514876.1:p.Pro10Leu
ENST00000700238.1:c.29C>T	ENSP00000514877.1:p.Pro10Leu
ENST00000700239.1:c.350-193C>T
ENST00000700240.1:c.29C>T	ENSP00000514880.1:p.Pro10Leu
ENST00000700241.1:c.418C>T
ENST00000700242.1:n.477C>T
ENST00000700243.1:c.29C>T	ENSP00000514883.1:p.Pro10Leu
ENST00000700244.1:n.373C>T
ENST00000700245.1:n.502C>T
ENST00000700246.1:c.29C>T	ENSP00000514885.1:p.Pro10Leu
ENST00000700283.1:c.298C>T
ENST00000700284.1:c.*211C>T	ENSP00000514917.1:n.*211C>T
ENST00000700285.1:c.416C>T	ENSP00000514918.1:p.Pro139Leu
ENST00000700286.1:n.483C>T
ENST00000700287.1:c.315C>T
ENST00000700289.1:n.161C>T
ENST00000700290.1:c.29C>T	ENSP00000514921.1:p.Pro10Leu
ENST00000700291.1:c.308C>T	ENSP00000514922.1:p.Pro103Leu
ENST00000395749.7:c.416C>T MANE Select	ENSP00000379098.2:p.Pro139Leu
ENST00000258682.10:c.416C>T	ENSP00000258682.6:p.Pro139Leu
ENST00000346990.8:c.416C>T	ENSP00000326518.5:p.Pro139Leu
ENST00000347193.8:c.416C>T	ENSP00000326544.6:p.Pro139Leu
ENST00000350811.7:c.416C>T	ENSP00000326375.5:p.Pro139Leu
ENST00000353185.7:c.416C>T	ENSP00000326600.4:p.Pro139Leu
ENST00000353625.8:c.416C>T	ENSP00000326427.5:p.Pro139Leu
ENST00000358707.7:c.416C>T	ENSP00000351542.3:p.Pro139Leu
ENST00000395747.6:c.416C>T	ENSP00000379096.2:p.Pro139Leu
ENST00000395749.6:c.416C>T	ENSP00000379098.2:p.Pro139Leu
ENST00000415369.5:c.464C>T	ENSP00000390419.1:p.Pro155Leu
ENST00000424197.5:c.452C>T	ENSP00000400387.1:p.Pro151Leu
ENST00000440254.6:c.416C>T	ENSP00000397937.2:p.Pro139Leu
ENST00000457475.5:c.416C>T	ENSP00000390292.1:p.Pro139Leu
ENST00000484972.5:n.489C>T
ENST00000495819.5:n.515C>T
ENST00000497127.5:n.397C>T
ENST00000497584.5:n.667C>T
ENST00000523845.5:c.295C>T	ENSP00000428912.1:p.Arg99Trp
NM_001220.4:c.416C>T	NP_001211.3:p.Pro139Leu
NM_001293170.1:c.416C>T	NP_001280099.1:p.Pro139Leu
NM_172078.2:c.416C>T	NP_742075.1:p.Pro139Leu
NM_172079.2:c.416C>T	NP_742076.1:p.Pro139Leu
NM_172080.2:c.416C>T	NP_742077.1:p.Pro139Leu
NM_172081.2:c.416C>T	NP_742078.1:p.Pro139Leu
NM_172082.2:c.416C>T	NP_742079.1:p.Pro139Leu
NM_172083.2:c.416C>T	NP_742080.1:p.Pro139Leu
NM_172084.2:c.416C>T	NP_742081.1:p.Pro139Leu
XM_005249862.3:c.416C>T	XP_005249919.1:p.Pro139Leu
XM_005249864.3:c.416C>T	XP_005249921.1:p.Pro139Leu
XM_006715781.2:c.416C>T	XP_006715844.1:p.Pro139Leu
XM_006715784.2:c.416C>T	XP_006715847.1:p.Pro139Leu
XM_011515547.1:c.416C>T	XP_011513849.1:p.Pro139Leu
XM_011515548.1:c.416C>T	XP_011513850.1:p.Pro139Leu
XM_011515549.1:c.416C>T	XP_011513851.1:p.Pro139Leu
XM_011515550.1:c.416C>T	XP_011513852.1:p.Pro139Leu
XM_011515551.1:c.416C>T	XP_011513853.1:p.Pro139Leu
XM_011515552.1:c.416C>T	XP_011513854.1:p.Pro139Leu
XM_011515553.1:c.416C>T	XP_011513855.1:p.Pro139Leu
XM_011515554.1:c.416C>T	XP_011513856.1:p.Pro139Leu
XM_011515555.1:c.416C>T	XP_011513857.1:p.Pro139Leu
XM_011515556.1:c.416C>T	XP_011513858.1:p.Pro139Leu
XM_011515557.1:c.416C>T	XP_011513859.1:p.Pro139Leu
XM_011515558.1:c.416C>T	XP_011513860.1:p.Pro139Leu
XM_011515559.1:c.29C>T	XP_011513861.1:p.Pro10Leu
XM_011515560.1:c.29C>T	XP_011513862.1:p.Pro10Leu
XM_011515558.2:c.416C>T	XP_011513860.1:p.Pro139Leu
XM_011515559.2:c.29C>T	XP_011513861.1:p.Pro10Leu
XM_017012660.1:c.416C>T	XP_016868149.1:p.Pro139Leu
XM_017012661.1:c.416C>T	XP_016868150.1:p.Pro139Leu
XM_017012662.1:c.416C>T	XP_016868151.1:p.Pro139Leu
XM_017012663.2:c.29C>T	XP_016868152.1:p.Pro10Leu
XM_017012664.1:c.416C>T	XP_016868153.1:p.Pro139Leu
XM_017012665.1:c.416C>T	XP_016868154.1:p.Pro139Leu
XM_017012666.2:c.29C>T	XP_016868155.1:p.Pro10Leu
XM_017012667.2:c.29C>T	XP_016868156.1:p.Pro10Leu
XM_017012668.2:c.29C>T	XP_016868157.1:p.Pro10Leu
XM_017012669.2:c.29C>T	XP_016868158.1:p.Pro10Leu
XM_017012670.2:c.29C>T	XP_016868159.1:p.Pro10Leu
XM_024446945.1:c.416C>T	XP_024302713.1:p.Pro139Leu
XM_024446946.1:c.29C>T	XP_024302714.1:p.Pro10Leu
NM_001220.5:c.416C>T MANE Select	NP_001211.3:p.Pro139Leu
NM_001293170.2:c.416C>T	NP_001280099.1:p.Pro139Leu
NM_172078.3:c.416C>T	NP_742075.1:p.Pro139Leu
NM_172080.3:c.416C>T	NP_742077.1:p.Pro139Leu
NM_172081.3:c.416C>T	NP_742078.1:p.Pro139Leu
NM_172082.3:c.416C>T	NP_742079.1:p.Pro139Leu
NM_172083.3:c.416C>T	NP_742080.1:p.Pro139Leu
NM_172084.3:c.416C>T	NP_742081.1:p.Pro139Leu
NM_172079.3:c.416C>T	NP_742076.1:p.Pro139Leu