Canonical Allele Identifier: CA16081906

Gene: GALNT2

Linked Data

• dbSNP Id: rs12040273
• gnomAD v2: 1-230199398-C-T
• gnomAD v3: 1-230063651-C-T
• gnomAD v4: 1-230063651-C-T
• MyVariant Identifiers: chr1:g.230199398C>T (hg19) ; chr1:g.230063651C>T (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230063651C>T , CM000663.2:g.230063651C>T	GRCh38
NC_000001.10:g.230199398C>T , CM000663.1:g.230199398C>T	GRCh37
NC_000001.9:g.228266021C>T	NCBI36
NG_011854.1:g.1443C>T
NG_011854.2:g.10863C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000494106.1:n.89+5573C>T
NM_001291866.1:c.12+5573C>T	NP_001278795.1:n.12+5573C>T
XM_017000965.1:c.12+5573C>T	XP_016856454.1:n.12+5573C>T
NM_001291866.2:c.12+5573C>T	NP_001278795.1:n.12+5573C>T