Canonical Allele Identifier: CA1017405701

Gene: TGM2

Linked Data

• gnomAD v3: 20-38165135-AC-A
• gnomAD v4: 20-38165135-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.38165140del , CM000682.2:g.38165140del	GRCh38
NC_000020.10:g.36793542del , CM000682.1:g.36793542del	GRCh37
NC_000020.9:g.36226956del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361475.7:c.10+53del MANE Select	ENSP00000355330.2:n.10+53del
ENST00000361475.6:c.10+53del	ENSP00000355330.2:n.10+53del
ENST00000373403.7:c.10+53del	ENSP00000362502.3:n.10+53del
ENST00000453095.1:c.10+53del	ENSP00000387642.1:n.10+53del
ENST00000468262.5:n.94+53del
ENST00000474777.1:n.71+53del
NM_004613.2:c.10+53del	NP_004604.2:n.10+53del
NM_198951.1:c.10+53del	NP_945189.1:n.10+53del
XM_011529028.1:c.10+53del	XP_011527330.1:n.10+53del
XM_011529029.1:c.10+53del	XP_011527331.1:n.10+53del
NM_001323316.1:c.10+53del	NP_001310245.1:n.10+53del
NM_001323317.1:c.10+53del	NP_001310246.1:n.10+53del
NM_001323318.1:c.10+53del	NP_001310247.1:n.10+53del
NM_004613.3:c.10+53del	NP_004604.2:n.10+53del
NM_198951.2:c.10+53del	NP_945189.1:n.10+53del
XR_001754586.1:n.43del
NM_004613.4:c.10+53del MANE Select	NP_004604.2:n.10+53del
NM_001323316.2:c.10+53del	NP_001310245.1:n.10+53del
NM_001323317.2:c.10+53del	NP_001310246.1:n.10+53del
NM_001323318.2:c.10+53del	NP_001310247.1:n.10+53del
NM_198951.3:c.10+53del	NP_945189.1:n.10+53del