Canonical Allele Identifier: CA39292541

Gene: GALNT2

Linked Data

• dbSNP Id: rs10127775
• gnomAD v2: 1-230295789-A-G
• gnomAD v3: 1-230160042-A-G
• gnomAD v4: 1-230160042-A-G
• MyVariant Identifiers: chr1:g.230295789A>G (hg19) ; chr1:g.230160042A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230160042A>G , CM000663.2:g.230160042A>G	GRCh38
NC_000001.10:g.230295789A>G , CM000663.1:g.230295789A>G	GRCh37
NC_000001.9:g.228362412A>G	NCBI36
NG_011854.1:g.97834A>G
NG_011854.2:g.107254A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366672.5:c.127-18176A>G MANE Select	ENSP00000355632.4:n.127-18176A>G
ENST00000366672.4:c.127-18176A>G	ENSP00000355632.4:n.127-18176A>G
ENST00000494106.1:n.90-18176A>G
NM_001291866.1:c.13-18176A>G	NP_001278795.1:n.13-18176A>G
NM_004481.4:c.127-18176A>G	NP_004472.1:n.127-18176A>G
XM_011544154.1:c.55-18176A>G	XP_011542456.1:n.55-18176A>G
XM_011544155.1:c.-75-18176A>G	XP_011542457.1:n.-75-18176A>G
XM_017000963.2:c.127-18176A>G	XP_016856452.1:n.127-18176A>G
XM_017000964.2:c.34-18176A>G	XP_016856453.1:n.34-18176A>G
XM_017000965.1:c.13-18176A>G	XP_016856454.1:n.13-18176A>G
XM_017000966.1:c.-75-18176A>G	XP_016856455.1:n.-75-18176A>G
NM_004481.5:c.127-18176A>G MANE Select	NP_004472.1:n.127-18176A>G
NM_001291866.2:c.13-18176A>G	NP_001278795.1:n.13-18176A>G