Canonical Allele Identifier: CA542264506

Gene: ACVR2B

Linked Data

• dbSNP Id: rs1221934268
• gnomAD v2: 3-38522828-A-G
• gnomAD v4: 3-38481337-A-G
• MyVariant Identifiers: chr3:g.38522828A>G (hg19) ; chr3:g.38481337A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38481337A>G , CM000665.2:g.38481337A>G	GRCh38
NC_000003.11:g.38522828A>G , CM000665.1:g.38522828A>G	GRCh37
NC_000003.10:g.38497832A>G	NCBI36
NG_011791.1:g.32039A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.960-14A>G MANE Select	ENSP00000340361.3:n.960-14A>G
ENST00000352511.4:c.960-14A>G	ENSP00000340361.3:n.960-14A>G
ENST00000461232.1:n.4749-14A>G
ENST00000465020.5:n.1046-14A>G
NM_001106.3:c.960-14A>G	NP_001097.2:n.960-14A>G
XM_005265583.2:c.1023-14A>G	XP_005265640.1:n.1023-14A>G
XM_005265583.3:c.1023-14A>G	XP_005265640.1:n.1023-14A>G
XM_017007514.1:c.1002-14A>G	XP_016863003.1:n.1002-14A>G
XM_017007515.2:c.978-14A>G	XP_016863004.1:n.978-14A>G
XM_017007516.1:c.957-14A>G	XP_016863005.1:n.957-14A>G
NM_001106.4:c.960-14A>G MANE Select	NP_001097.2:n.960-14A>G