Canonical Allele Identifier: CA2319034

Gene: ACVR2B

Linked Data

• dbSNP Id: rs755527007
• ExAC: 3:38523935 T / C
• gnomAD v2: 3-38523935-T-C
• gnomAD v4: 3-38482444-T-C
• MyVariant Identifiers: chr3:g.38523935T>C (hg19) ; chr3:g.38482444T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482444T>C , CM000665.2:g.38482444T>C	GRCh38
NC_000003.11:g.38523935T>C , CM000665.1:g.38523935T>C	GRCh37
NC_000003.10:g.38498939T>C	NCBI36
NG_011791.1:g.33146T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1228T>C MANE Select	ENSP00000340361.3:p.Tyr410His
ENST00000352511.4:c.1228T>C	ENSP00000340361.3:p.Tyr410His
ENST00000461232.1:n.5017T>C
ENST00000465020.5:n.1314T>C
NM_001106.3:c.1228T>C	NP_001097.2:p.Tyr410His
XM_005265583.2:c.1291T>C	XP_005265640.1:p.Tyr431His
XM_005265583.3:c.1291T>C	XP_005265640.1:p.Tyr431His
XM_017007514.1:c.1270T>C	XP_016863003.1:p.Tyr424His
XM_017007515.2:c.1246T>C	XP_016863004.1:p.Tyr416His
XM_017007516.1:c.1225T>C	XP_016863005.1:p.Tyr409His
NM_001106.4:c.1228T>C MANE Select	NP_001097.2:p.Tyr410His