Canonical Allele Identifier: CA15154225
Gene: GCFC2 HGNC NCBI

Linked Data

dbSNP Id: rs2298948
gnomAD v2: 2-75926565-T-C
gnomAD v3: 2-75699439-T-C
gnomAD v4: 2-75699439-T-C
MyVariant Identifiers: chr2:g.75926565T>C (hg19) chr2:g.75699439T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75699439T>C , CM000664.2:g.75699439T>C GRCh38
NC_000002.11:g.75926565T>C , CM000664.1:g.75926565T>C GRCh37
NC_000002.10:g.75780073T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000321027.8:c.717+1751A>G MANE Select ENSP00000318690.3:n.717+1751A>G
ENST00000321027.7:c.717+1751A>G ENSP00000318690.3:n.717+1751A>G
ENST00000409857.7:c.603+1751A>G ENSP00000386552.3:n.603+1751A>G
ENST00000442309.5:c.492+1751A>G ENSP00000415831.1:n.492+1751A>G
ENST00000470197.5:n.183+1751A>G
ENST00000472230.5:c.615+1751A>G ENSP00000474136.1:n.615+1751A>G
ENST00000541687.5:c.717+1751A>G ENSP00000437767.1:n.717+1751A>G
NM_001201334.1:c.210+1751A>G NP_001188263.1:n.210+1751A>G
NM_003203.4:c.717+1751A>G NP_003194.3:n.717+1751A>G
XM_005264520.2:c.741+1751A>G XP_005264577.1:n.741+1751A>G
XM_011533074.1:c.492+1751A>G XP_011531376.1:n.492+1751A>G
XM_011533075.1:c.741+1751A>G XP_011531377.1:n.741+1751A>G
XR_426995.2:n.872+1751A>G
XM_005264520.4:c.741+1751A>G XP_005264577.1:n.741+1751A>G
XM_011533074.3:c.492+1751A>G XP_011531376.1:n.492+1751A>G
XM_011533075.2:c.741+1751A>G XP_011531377.1:n.741+1751A>G
XM_017004787.2:c.741+1751A>G XP_016860276.1:n.741+1751A>G
XR_001738916.2:n.1500+1751A>G
XR_002959327.1:n.1504+1751A>G
XR_426995.3:n.850+1751A>G
NM_001201334.2:c.210+1751A>G NP_001188263.1:n.210+1751A>G
NM_003203.5:c.717+1751A>G MANE Select NP_003194.3:n.717+1751A>G
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