Canonical Allele Identifier: CA9850141

Gene: TGM2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.38132480T>C , CM000682.2:g.38132480T>C	GRCh38
NC_000020.10:g.36760882T>C , CM000682.1:g.36760882T>C	GRCh37
NC_000020.9:g.36194296T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361475.7:c.1636A>G MANE Select	ENSP00000355330.2:p.Ile546Val
ENST00000361475.6:c.1636A>G	ENSP00000355330.2:p.Ile546Val
ENST00000469269.1:n.1281A>G
NM_004613.2:c.1636A>G	NP_004604.2:p.Ile546Val
XM_011529028.1:c.1636A>G	XP_011527330.1:p.Ile546Val
XM_011529029.1:c.1636A>G	XP_011527331.1:p.Ile546Val
NM_001323316.1:c.1636A>G	NP_001310245.1:p.Ile546Val
NM_001323317.1:c.1393A>G	NP_001310246.1:p.Ile465Val
NM_001323318.1:c.1456A>G	NP_001310247.1:p.Ile486Val
NM_004613.3:c.1636A>G	NP_004604.2:p.Ile546Val
NM_004613.4:c.1636A>G MANE Select	NP_004604.2:p.Ile546Val
NM_001323316.2:c.1636A>G	NP_001310245.1:p.Ile546Val
NM_001323317.2:c.1393A>G	NP_001310246.1:p.Ile465Val
NM_001323318.2:c.1456A>G	NP_001310247.1:p.Ile486Val