Canonical Allele Identifier: CA314363023

Gene: TGM2

Linked Data

• dbSNP Id: rs45596832
• gnomAD v2: 20-36793449-A-C
• gnomAD v3: 20-38165047-A-C
• gnomAD v4: 20-38165047-A-C
• MyVariant Identifiers: chr20:g.36793449A>C (hg19) ; chr20:g.38165047A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.38165047A>C , CM000682.2:g.38165047A>C	GRCh38
NC_000020.10:g.36793449A>C , CM000682.1:g.36793449A>C	GRCh37
NC_000020.9:g.36226863A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361475.7:c.10+142T>G MANE Select	ENSP00000355330.2:n.10+142T>G
ENST00000361475.6:c.10+142T>G	ENSP00000355330.2:n.10+142T>G
ENST00000373403.7:c.10+142T>G	ENSP00000362502.3:n.10+142T>G
ENST00000453095.1:c.10+142T>G	ENSP00000387642.1:n.10+142T>G
ENST00000468262.5:n.94+142T>G
ENST00000474777.1:n.71+142T>G
NM_004613.2:c.10+142T>G	NP_004604.2:n.10+142T>G
NM_198951.1:c.10+142T>G	NP_945189.1:n.10+142T>G
XM_011529028.1:c.10+142T>G	XP_011527330.1:n.10+142T>G
XM_011529029.1:c.10+142T>G	XP_011527331.1:n.10+142T>G
NM_001323316.1:c.10+142T>G	NP_001310245.1:n.10+142T>G
NM_001323317.1:c.10+142T>G	NP_001310246.1:n.10+142T>G
NM_001323318.1:c.10+142T>G	NP_001310247.1:n.10+142T>G
NM_004613.3:c.10+142T>G	NP_004604.2:n.10+142T>G
NM_198951.2:c.10+142T>G	NP_945189.1:n.10+142T>G
XR_001754586.1:n.132T>G
NM_004613.4:c.10+142T>G MANE Select	NP_004604.2:n.10+142T>G
NM_001323316.2:c.10+142T>G	NP_001310245.1:n.10+142T>G
NM_001323317.2:c.10+142T>G	NP_001310246.1:n.10+142T>G
NM_001323318.2:c.10+142T>G	NP_001310247.1:n.10+142T>G
NM_198951.3:c.10+142T>G	NP_945189.1:n.10+142T>G