Canonical Allele Identifier: CA352132960

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38522846T>C (hg19) ; chr3:g.38481355T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38481355T>C , CM000665.2:g.38481355T>C	GRCh38
NC_000003.11:g.38522846T>C , CM000665.1:g.38522846T>C	GRCh37
NC_000003.10:g.38497850T>C	NCBI36
NG_011791.1:g.32057T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.964T>C MANE Select	ENSP00000340361.3:p.Phe322Leu
ENST00000352511.4:c.964T>C	ENSP00000340361.3:p.Phe322Leu
ENST00000461232.1:n.4753T>C
ENST00000465020.5:n.1050T>C
NM_001106.3:c.964T>C	NP_001097.2:p.Phe322Leu
XM_005265583.2:c.1027T>C	XP_005265640.1:p.Phe343Leu
XM_005265583.3:c.1027T>C	XP_005265640.1:p.Phe343Leu
XM_017007514.1:c.1006T>C	XP_016863003.1:p.Phe336Leu
XM_017007515.2:c.982T>C	XP_016863004.1:p.Phe328Leu
XM_017007516.1:c.961T>C	XP_016863005.1:p.Phe321Leu
NM_001106.4:c.964T>C MANE Select	NP_001097.2:p.Phe322Leu