Canonical Allele Identifier: CA344725482

Gene: TGFB2

Linked Data

• gnomAD v4: 1-218346888-G-C
• MyVariant Identifiers: chr1:g.218520230G>C (hg19) ; chr1:g.218346888G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346888G>C , CM000663.2:g.218346888G>C	GRCh38
NC_000001.10:g.218520230G>C , CM000663.1:g.218520230G>C	GRCh37
NC_000001.9:g.216586853G>C	NCBI36
NG_027721.1:g.6555G>C
NG_027721.2:g.6555G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.187G>C MANE Select	ENSP00000355897.4:p.Val63Leu
ENST00000366929.4:c.187G>C	ENSP00000355896.4:p.Val63Leu
ENST00000366930.8:c.187G>C	ENSP00000355897.4:p.Val63Leu
NM_001135599.2:c.187G>C	NP_001129071.1:p.Val63Leu
NM_003238.3:c.187G>C	NP_003229.1:p.Val63Leu
NM_001135599.3:c.187G>C	NP_001129071.1:p.Val63Leu
NM_003238.4:c.187G>C	NP_003229.1:p.Val63Leu
NR_138148.1:n.1605G>C
NR_138149.1:n.1605G>C
NM_003238.5:c.187G>C	NP_003229.1:p.Val63Leu
NM_003238.6:c.187G>C MANE Select	NP_003229.1:p.Val63Leu
NM_001135599.4:c.187G>C	NP_001129071.1:p.Val63Leu
NR_138148.2:n.1553G>C
NR_138149.2:n.1553G>C