Canonical Allele Identifier: CA423177038

Gene: TGFB2

Linked Data

• MyVariant Identifiers: chr1:g.218520352T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218347010T>C , CM000663.2:g.218347010T>C	GRCh38
NC_000001.10:g.218520352T>C , CM000663.1:g.218520352T>C	GRCh37
NC_000001.9:g.216586975T>C	NCBI36
NG_027721.1:g.6677T>C
NG_027721.2:g.6677T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.309T>C MANE Select	ENSP00000355897.4:p.Val103=
ENST00000366929.4:c.309T>C	ENSP00000355896.4:p.Val103=
ENST00000366930.8:c.309T>C	ENSP00000355897.4:p.Val103=
NM_001135599.2:c.309T>C	NP_001129071.1:p.Val103=
NM_003238.3:c.309T>C	NP_003229.1:p.Val103=
NM_001135599.3:c.309T>C	NP_001129071.1:p.Val103=
NM_003238.4:c.309T>C	NP_003229.1:p.Val103=
NR_138148.1:n.1727T>C
NR_138149.1:n.1727T>C
NM_003238.5:c.309T>C	NP_003229.1:p.Val103=
NM_003238.6:c.309T>C MANE Select	NP_003229.1:p.Val103=
NM_001135599.4:c.309T>C	NP_001129071.1:p.Val103=
NR_138148.2:n.1675T>C
NR_138149.2:n.1675T>C