Canonical Allele Identifier: CA542262084

Gene: ACVR2B

Linked Data

• dbSNP Id: rs1396675070
• gnomAD v2: 3-38505904-A-G
• gnomAD v3: 3-38464413-A-G
• gnomAD v4: 3-38464413-A-G
• MyVariant Identifiers: chr3:g.38505904A>G (hg19) ; chr3:g.38464413A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38464413A>G , CM000665.2:g.38464413A>G	GRCh38
NC_000003.11:g.38505904A>G , CM000665.1:g.38505904A>G	GRCh37
NC_000003.10:g.38480908A>G	NCBI36
NG_011791.1:g.15115A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.52+10039A>G MANE Select	ENSP00000340361.3:n.52+10039A>G
ENST00000352511.4:c.52+10039A>G	ENSP00000340361.3:n.52+10039A>G
ENST00000465020.5:n.56+10039A>G
NM_001106.3:c.52+10039A>G	NP_001097.2:n.52+10039A>G
XM_005265583.2:c.115+4724A>G	XP_005265640.1:n.115+4724A>G
XM_005265583.3:c.115+4724A>G	XP_005265640.1:n.115+4724A>G
XM_017007514.1:c.94+4745A>G	XP_016863003.1:n.94+4745A>G
XM_017007515.2:c.70+9729A>G	XP_016863004.1:n.70+9729A>G
NM_001106.4:c.52+10039A>G MANE Select	NP_001097.2:n.52+10039A>G