Canonical Allele Identifier: CA352134768

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38523949T>A (hg19) ; chr3:g.38482458T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482458T>A , CM000665.2:g.38482458T>A	GRCh38
NC_000003.11:g.38523949T>A , CM000665.1:g.38523949T>A	GRCh37
NC_000003.10:g.38498953T>A	NCBI36
NG_011791.1:g.33160T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1242T>A MANE Select	ENSP00000340361.3:p.Phe414Leu
ENST00000352511.4:c.1242T>A	ENSP00000340361.3:p.Phe414Leu
ENST00000461232.1:n.5031T>A
ENST00000465020.5:n.1328T>A
NM_001106.3:c.1242T>A	NP_001097.2:p.Phe414Leu
XM_005265583.2:c.1305T>A	XP_005265640.1:p.Phe435Leu
XM_005265583.3:c.1305T>A	XP_005265640.1:p.Phe435Leu
XM_017007514.1:c.1284T>A	XP_016863003.1:p.Phe428Leu
XM_017007515.2:c.1260T>A	XP_016863004.1:p.Phe420Leu
XM_017007516.1:c.1239T>A	XP_016863005.1:p.Phe413Leu
NM_001106.4:c.1242T>A MANE Select	NP_001097.2:p.Phe414Leu