Canonical Allele Identifier: CA352134745

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38523938A>C (hg19) ; chr3:g.38482447A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482447A>C , CM000665.2:g.38482447A>C	GRCh38
NC_000003.11:g.38523938A>C , CM000665.1:g.38523938A>C	GRCh37
NC_000003.10:g.38498942A>C	NCBI36
NG_011791.1:g.33149A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1231A>C MANE Select	ENSP00000340361.3:p.Met411Leu
ENST00000352511.4:c.1231A>C	ENSP00000340361.3:p.Met411Leu
ENST00000461232.1:n.5020A>C
ENST00000465020.5:n.1317A>C
NM_001106.3:c.1231A>C	NP_001097.2:p.Met411Leu
XM_005265583.2:c.1294A>C	XP_005265640.1:p.Met432Leu
XM_005265583.3:c.1294A>C	XP_005265640.1:p.Met432Leu
XM_017007514.1:c.1273A>C	XP_016863003.1:p.Met425Leu
XM_017007515.2:c.1249A>C	XP_016863004.1:p.Met417Leu
XM_017007516.1:c.1228A>C	XP_016863005.1:p.Met410Leu
NM_001106.4:c.1231A>C MANE Select	NP_001097.2:p.Met411Leu