Canonical Allele Identifier: CA37543359

Gene: TGFB2

Linked Data

• dbSNP Id: rs999293298
• gnomAD v4: 1-218345706-G-A
• MyVariant Identifiers: chr1:g.218519048G>A (hg19) ; chr1:g.218345706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218345706G>A , CM000663.2:g.218345706G>A	GRCh38
NC_000001.10:g.218519048G>A , CM000663.1:g.218519048G>A	GRCh37
NC_000001.9:g.216585671G>A	NCBI36
NG_027721.1:g.5373G>A
NG_027721.2:g.5373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.-996G>A MANE Select	ENSP00000355897.4:n.-996G>A
NM_001135599.2:c.-996G>A	NP_001129071.1:n.-996G>A
NM_003238.3:c.-996G>A	NP_003229.1:n.-996G>A
NM_001135599.3:c.-996G>A	NP_001129071.1:n.-996G>A
NM_003238.4:c.-996G>A	NP_003229.1:n.-996G>A
NR_138148.1:n.423G>A
NR_138149.1:n.423G>A
NM_003238.5:c.-996G>A	NP_003229.1:n.-996G>A
NM_003238.6:c.-996G>A MANE Select	NP_003229.1:n.-996G>A
NM_001135599.4:c.-996G>A	NP_001129071.1:n.-996G>A
NR_138148.2:n.371G>A
NR_138149.2:n.371G>A