Canonical Allele Identifier: CA732642093

Gene: GALNT2

Linked Data

• dbSNP Id: rs10489615
• gnomAD v3: 1-230169242-A-C
• gnomAD v4: 1-230169242-A-C
• MyVariant Identifiers: chr1:g.230304988A>C (hg19) ; chr1:g.230169242A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230169242A>C , CM000663.2:g.230169242A>C	GRCh38
NC_000001.10:g.230304988A>C , CM000663.1:g.230304988A>C	GRCh37
NC_000001.9:g.228371611A>C	NCBI36
NG_011854.1:g.107033A>C
NG_011854.2:g.116454A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366672.5:c.127-8976A>C MANE Select	ENSP00000355632.4:n.127-8976A>C
ENST00000366672.4:c.127-8976A>C	ENSP00000355632.4:n.127-8976A>C
ENST00000494106.1:n.90-8976A>C
NM_001291866.1:c.13-8976A>C	NP_001278795.1:n.13-8976A>C
NM_004481.4:c.127-8976A>C	NP_004472.1:n.127-8976A>C
XM_011544154.1:c.55-8976A>C	XP_011542456.1:n.55-8976A>C
XM_011544155.1:c.-75-8976A>C	XP_011542457.1:n.-75-8976A>C
XM_017000963.2:c.127-8976A>C	XP_016856452.1:n.127-8976A>C
XM_017000964.2:c.34-8976A>C	XP_016856453.1:n.34-8976A>C
XM_017000965.1:c.13-8976A>C	XP_016856454.1:n.13-8976A>C
XM_017000966.1:c.-75-8976A>C	XP_016856455.1:n.-75-8976A>C
NM_004481.5:c.127-8976A>C MANE Select	NP_004472.1:n.127-8976A>C
NM_001291866.2:c.13-8976A>C	NP_001278795.1:n.13-8976A>C