Canonical Allele Identifier: CA345176757

Gene: GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230203227T>C , CM000663.2:g.230203227T>C	GRCh38
NC_000001.10:g.230338973T>C , CM000663.1:g.230338973T>C	GRCh37
NC_000001.9:g.228405596T>C	NCBI36
NG_011854.1:g.141018T>C
NG_011854.2:g.150439T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004481.5:c.311T>C MANE Select	NP_004472.1:p.Phe104Ser
ENST00000366672.5:c.311T>C MANE Select	ENSP00000355632.4:p.Phe104Ser
NM_001291866.1:c.197T>C	NP_001278795.1:p.Phe66Ser
NM_001291866.2:c.197T>C	NP_001278795.1:p.Phe66Ser
NM_004481.4:c.311T>C	NP_004472.1:p.Phe104Ser
ENST00000366672.4:c.311T>C	ENSP00000355632.4:p.Phe104Ser
ENST00000494106.1:n.274T>C
XM_011544154.1:c.239T>C	XP_011542456.1:p.Phe80Ser
XM_011544155.1:c.110T>C	XP_011542457.1:p.Phe37Ser
XM_017000963.2:c.311T>C	XP_016856452.1:p.Phe104Ser
XM_017000964.2:c.218T>C	XP_016856453.1:p.Phe73Ser
XM_017000965.1:c.197T>C	XP_016856454.1:p.Phe66Ser
XM_017000966.1:c.110T>C	XP_016856455.1:p.Phe37Ser