Canonical Allele Identifier: CA1398390

Gene: TGFB2

Linked Data

• dbSNP Id: rs773212379
• ExAC: 1:218520297 GGGC / G
• gnomAD v2: 1-218520297-GGGC-G
• gnomAD v3: 1-218346955-GGGC-G
• gnomAD v4: 1-218346955-GGGC-G
• MyVariant Identifiers: chr1:g.218520298_218520300del (hg19) ; chr1:g.218346956_218346958del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346959_218346961del , CM000663.2:g.218346959_218346961del	GRCh38
NC_000001.10:g.218520301_218520303del , CM000663.1:g.218520301_218520303del	GRCh37
NC_000001.9:g.216586924_216586926del	NCBI36
NG_027721.1:g.6626_6628del
NG_027721.2:g.6626_6628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.258_260del MANE Select	ENSP00000355897.4:p.Ala87del
ENST00000366929.4:c.258_260del	ENSP00000355896.4:p.Ala87del
ENST00000366930.8:c.258_260del	ENSP00000355897.4:p.Ala87del
NM_001135599.2:c.258_260del	NP_001129071.1:p.Ala87del
NM_003238.3:c.258_260del	NP_003229.1:p.Ala87del
NM_001135599.3:c.258_260del	NP_001129071.1:p.Ala87del
NM_003238.4:c.258_260del	NP_003229.1:p.Ala87del
NR_138148.1:n.1676_1678del
NR_138149.1:n.1676_1678del
NM_003238.5:c.258_260del	NP_003229.1:p.Ala87del
NM_003238.6:c.258_260del MANE Select	NP_003229.1:p.Ala87del
NM_001135599.4:c.258_260del	NP_001129071.1:p.Ala87del
NR_138148.2:n.1624_1626del
NR_138149.2:n.1624_1626del