Canonical Allele Identifier: CA352126147

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38518838T>C (hg19) ; chr3:g.38477347T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38477347T>C , CM000665.2:g.38477347T>C	GRCh38
NC_000003.11:g.38518838T>C , CM000665.1:g.38518838T>C	GRCh37
NC_000003.10:g.38493842T>C	NCBI36
NG_011791.1:g.28049T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.113T>C MANE Select	ENSP00000340361.3:p.Leu38Pro
ENST00000352511.4:c.113T>C	ENSP00000340361.3:p.Leu38Pro
ENST00000461232.1:n.3902T>C
ENST00000465020.5:n.117T>C
NM_001106.3:c.113T>C	NP_001097.2:p.Leu38Pro
XM_005265583.2:c.176T>C	XP_005265640.1:p.Leu59Pro
XM_005265583.3:c.176T>C	XP_005265640.1:p.Leu59Pro
XM_017007514.1:c.155T>C	XP_016863003.1:p.Leu52Pro
XM_017007515.2:c.131T>C	XP_016863004.1:p.Leu44Pro
XM_017007516.1:c.110T>C	XP_016863005.1:p.Leu37Pro
NM_001106.4:c.113T>C MANE Select	NP_001097.2:p.Leu38Pro