Canonical Allele Identifier: CA37544359

Gene: TGFB2

Linked Data

• dbSNP Id: rs12723776
• gnomAD v4: 1-218346642-T-G
• MyVariant Identifiers: chr1:g.218519984T>G (hg19) ; chr1:g.218346642T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346642T>G , CM000663.2:g.218346642T>G	GRCh38
NC_000001.10:g.218519984T>G , CM000663.1:g.218519984T>G	GRCh37
NC_000001.9:g.216586607T>G	NCBI36
NG_027721.1:g.6309T>G
NG_027721.2:g.6309T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.-60T>G MANE Select	ENSP00000355897.4:n.-60T>G
ENST00000366929.4:c.-60T>G	ENSP00000355896.4:n.-60T>G
ENST00000366930.8:c.-60T>G	ENSP00000355897.4:n.-60T>G
NM_001135599.2:c.-60T>G	NP_001129071.1:n.-60T>G
NM_003238.3:c.-60T>G	NP_003229.1:n.-60T>G
NM_001135599.3:c.-60T>G	NP_001129071.1:n.-60T>G
NM_003238.4:c.-60T>G	NP_003229.1:n.-60T>G
NR_138148.1:n.1359T>G
NR_138149.1:n.1359T>G
NM_003238.5:c.-60T>G	NP_003229.1:n.-60T>G
NM_003238.6:c.-60T>G MANE Select	NP_003229.1:n.-60T>G
NM_001135599.4:c.-60T>G	NP_001129071.1:n.-60T>G
NR_138148.2:n.1307T>G
NR_138149.2:n.1307T>G