Canonical Allele Identifier: CA344727878

Gene: TGFB2

Linked Data

• dbSNP Id: rs1558266093
• gnomAD v4: 1-218441261-T-C
• MyVariant Identifiers: chr1:g.218614603T>C (hg19) ; chr1:g.218441261T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441261T>C , CM000663.2:g.218441261T>C	GRCh38
NC_000001.10:g.218614603T>C , CM000663.1:g.218614603T>C	GRCh37
NC_000001.9:g.216681226T>C	NCBI36
NG_027721.1:g.100928T>C
NG_027721.2:g.100928T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1144T>C MANE Select	ENSP00000355897.4:p.Ser382Pro
ENST00000366929.4:c.1228T>C	ENSP00000355896.4:p.Ser410Pro
ENST00000366930.8:c.1144T>C	ENSP00000355897.4:p.Ser382Pro
ENST00000479322.1:n.628T>C
NM_001135599.2:c.1228T>C	NP_001129071.1:p.Ser410Pro
NM_003238.3:c.1144T>C	NP_003229.1:p.Ser382Pro
NM_001135599.3:c.1228T>C	NP_001129071.1:p.Ser410Pro
NM_003238.4:c.1144T>C	NP_003229.1:p.Ser382Pro
NR_138148.1:n.2447T>C
NR_138149.1:n.2531T>C
NM_003238.5:c.1144T>C	NP_003229.1:p.Ser382Pro
NM_003238.6:c.1144T>C MANE Select	NP_003229.1:p.Ser382Pro
NM_001135599.4:c.1228T>C	NP_001129071.1:p.Ser410Pro
NR_138148.2:n.2395T>C
NR_138149.2:n.2479T>C