Canonical Allele Identifier: CA906860086

Gene: ACVR2B

Linked Data

• dbSNP Id: rs1378848085
• gnomAD v3: 3-38477246-C-T
• gnomAD v4: 3-38477246-C-T
• MyVariant Identifiers: chr3:g.38518737C>T (hg19) ; chr3:g.38477246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38477246C>T , CM000665.2:g.38477246C>T	GRCh38
NC_000003.11:g.38518737C>T , CM000665.1:g.38518737C>T	GRCh37
NC_000003.10:g.38493741C>T	NCBI36
NG_011791.1:g.27948C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.53-41C>T MANE Select	ENSP00000340361.3:n.53-41C>T
ENST00000352511.4:c.53-41C>T	ENSP00000340361.3:n.53-41C>T
ENST00000461232.1:n.3801C>T
ENST00000465020.5:n.57-41C>T
NM_001106.3:c.53-41C>T	NP_001097.2:n.53-41C>T
XM_005265583.2:c.116-41C>T	XP_005265640.1:n.116-41C>T
XM_005265583.3:c.116-41C>T	XP_005265640.1:n.116-41C>T
XM_017007514.1:c.95-41C>T	XP_016863003.1:n.95-41C>T
XM_017007515.2:c.71-41C>T	XP_016863004.1:n.71-41C>T
XM_017007516.1:c.50-41C>T	XP_016863005.1:n.50-41C>T
NM_001106.4:c.53-41C>T MANE Select	NP_001097.2:n.53-41C>T