Canonical Allele Identifier: CA423413192
Gene: TGFB2 HGNC NCBI

Linked Data

dbSNP Id: rs1656692966
MyVariant Identifiers: chr1:g.218520079G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218346737G>T , CM000663.2:g.218346737G>T GRCh38
NC_000001.10:g.218520079G>T , CM000663.1:g.218520079G>T GRCh37
NC_000001.9:g.216586702G>T NCBI36
NG_027721.1:g.6404G>T
NG_027721.2:g.6404G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.36G>T MANE Select ENSP00000355897.4:p.Leu12=
ENST00000366929.4:c.36G>T ENSP00000355896.4:p.Leu12=
ENST00000366930.8:c.36G>T ENSP00000355897.4:p.Leu12=
NM_001135599.2:c.36G>T NP_001129071.1:p.Leu12=
NM_003238.3:c.36G>T NP_003229.1:p.Leu12=
NM_001135599.3:c.36G>T NP_001129071.1:p.Leu12=
NM_003238.4:c.36G>T NP_003229.1:p.Leu12=
NR_138148.1:n.1454G>T
NR_138149.1:n.1454G>T
NM_003238.5:c.36G>T NP_003229.1:p.Leu12=
NM_003238.6:c.36G>T MANE Select NP_003229.1:p.Leu12=
NM_001135599.4:c.36G>T NP_001129071.1:p.Leu12=
NR_138148.2:n.1402G>T
NR_138149.2:n.1402G>T