Canonical Allele Identifier: CA1446310
Gene: GALNT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230249191T>C , CM000663.2:g.230249191T>C GRCh38
NC_000001.10:g.230384937T>C , CM000663.1:g.230384937T>C GRCh37
NC_000001.9:g.228451560T>C NCBI36
NG_011854.1:g.186982T>C
NG_011854.2:g.196403T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366672.5:c.825T>C MANE Select ENSP00000355632.4:p.Asp275=
ENST00000366672.4:c.825T>C ENSP00000355632.4:p.Asp275=
NM_001291866.1:c.711T>C NP_001278795.1:p.Asp237=
NM_004481.4:c.825T>C NP_004472.1:p.Asp275=
XM_011544154.1:c.753T>C XP_011542456.1:p.Asp251=
XM_011544155.1:c.624T>C XP_011542457.1:p.Asp208=
XM_017000963.2:c.825T>C XP_016856452.1:p.Asp275=
XM_017000964.2:c.732T>C XP_016856453.1:p.Asp244=
XM_017000965.1:c.711T>C XP_016856454.1:p.Asp237=
XM_017000966.1:c.624T>C XP_016856455.1:p.Asp208=
NM_004481.5:c.825T>C MANE Select NP_004472.1:p.Asp275=
NM_001291866.2:c.711T>C NP_001278795.1:p.Asp237=