Canonical Allele Identifier: CA1446274
Community Standard Title: NM_004481.5(GALNT2):c.730-18C>T
Gene: GALNT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230246045C>T , CM000663.2:g.230246045C>T GRCh38
NC_000001.10:g.230381791C>T , CM000663.1:g.230381791C>T GRCh37
NC_000001.9:g.228448414C>T NCBI36
NG_011854.1:g.183836C>T
NG_011854.2:g.193257C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004481.5:c.730-18C>T MANE Select NP_004472.1:n.730-18C>T
ENST00000366672.5:c.730-18C>T MANE Select ENSP00000355632.4:n.730-18C>T
NM_001291866.1:c.616-18C>T NP_001278795.1:n.616-18C>T
NM_001291866.2:c.616-18C>T NP_001278795.1:n.616-18C>T
NM_004481.4:c.730-18C>T NP_004472.1:n.730-18C>T
ENST00000366672.4:c.730-18C>T ENSP00000355632.4:n.730-18C>T
XM_011544154.1:c.658-18C>T XP_011542456.1:n.658-18C>T
XM_011544155.1:c.529-18C>T XP_011542457.1:n.529-18C>T
XM_017000963.2:c.730-18C>T XP_016856452.1:n.730-18C>T
XM_017000964.2:c.637-18C>T XP_016856453.1:n.637-18C>T
XM_017000965.1:c.616-18C>T XP_016856454.1:n.616-18C>T
XM_017000966.1:c.529-18C>T XP_016856455.1:n.529-18C>T