Canonical Allele Identifier: CA731610157

Gene: TGFB2

Linked Data

• dbSNP Id: rs1333613332
• gnomAD v4: 1-218441423-A-C
• MyVariant Identifiers: chr1:g.218614765A>C (hg19) ; chr1:g.218441423A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441423A>C , CM000663.2:g.218441423A>C	GRCh38
NC_000001.10:g.218614765A>C , CM000663.1:g.218614765A>C	GRCh37
NC_000001.9:g.216681388A>C	NCBI36
NG_027721.1:g.101090A>C
NG_027721.2:g.101090A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.*61A>C MANE Select	ENSP00000355897.4:n.*61A>C
ENST00000366929.4:c.*61A>C	ENSP00000355896.4:n.*61A>C
ENST00000366930.8:c.*61A>C	ENSP00000355897.4:n.*61A>C
ENST00000479322.1:n.790A>C
NM_001135599.2:c.*61A>C	NP_001129071.1:n.*61A>C
NM_003238.3:c.*61A>C	NP_003229.1:n.*61A>C
NM_001135599.3:c.*61A>C	NP_001129071.1:n.*61A>C
NM_003238.4:c.*61A>C	NP_003229.1:n.*61A>C
NR_138148.1:n.2609A>C
NR_138149.1:n.2693A>C
NM_003238.5:c.*61A>C	NP_003229.1:n.*61A>C
NM_003238.6:c.*61A>C MANE Select	NP_003229.1:n.*61A>C
NM_001135599.4:c.*61A>C	NP_001129071.1:n.*61A>C
NR_138148.2:n.2557A>C
NR_138149.2:n.2641A>C