Canonical Allele Identifier: CA565380684

Gene: GCNT2

Linked Data

• dbSNP Id: rs767054576
• gnomAD v2: 6-10530096-T-C
• gnomAD v3: 6-10529863-T-C
• gnomAD v4: 6-10529863-T-C
• MyVariant Identifiers: chr6:g.10530096T>C (hg19) ; chr6:g.10529863T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529863T>C , CM000668.2:g.10529863T>C	GRCh38
NC_000006.11:g.10530096T>C , CM000668.1:g.10530096T>C	GRCh37
NC_000006.10:g.10638082T>C	NCBI36
NG_007469.3:g.42641T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+1022T>C
ENST00000495262.7:c.925+27T>C MANE Select	ENSP00000419411.2:n.925+27T>C
ENST00000379597.7:c.925+27T>C	ENSP00000368917.3:n.925+27T>C
ENST00000397423.6:n.484+1022T>C
ENST00000410107.5:c.67+20705T>C	ENSP00000386321.1:n.67+20705T>C
ENST00000461400.1:n.25+27T>C
ENST00000474518.1:n.508+1022T>C
ENST00000474983.5:n.1529T>C
ENST00000475577.5:n.254+2203T>C
ENST00000483204.1:n.1528T>C
ENST00000485764.1:n.40+27T>C
ENST00000489225.5:n.283+36932T>C
ENST00000489819.5:n.175+8269T>C
ENST00000495262.5:c.925+27T>C	ENSP00000419411.1:n.925+27T>C
NM_145649.4:c.925+27T>C	NP_663624.1:n.925+27T>C
XM_005248999.2:c.694+27T>C	XP_005249056.1:n.694+27T>C
XM_006715052.2:c.925+27T>C	XP_006715115.1:n.925+27T>C
XM_006715053.2:c.925+27T>C	XP_006715116.1:n.925+27T>C
XM_011514465.1:c.925+27T>C	XP_011512767.1:n.925+27T>C
XM_011514467.1:c.694+27T>C	XP_011512769.1:n.694+27T>C
XM_011514468.1:c.925+27T>C	XP_011512770.1:n.925+27T>C
XR_926136.1:n.1476+27T>C
XM_006715052.3:c.925+27T>C	XP_006715115.1:n.925+27T>C
XM_011514468.3:c.925+27T>C	XP_011512770.1:n.925+27T>C
XM_017010732.2:c.925+27T>C	XP_016866221.1:n.925+27T>C
XR_002956275.1:n.1476+27T>C
XR_926136.2:n.1474+27T>C
NM_001374747.1:c.925+27T>C	NP_001361676.1:n.925+27T>C
NM_145649.5:c.925+27T>C MANE Select	NP_663624.1:n.925+27T>C