Canonical Allele Identifier: CA72926316

Gene: ACVR2B

Linked Data

• dbSNP Id: rs775292498
• gnomAD v4: 3-38482364-C-G
• MyVariant Identifiers: chr3:g.38523855C>G (hg19) ; chr3:g.38482364C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482364C>G , CM000665.2:g.38482364C>G	GRCh38
NC_000003.11:g.38523855C>G , CM000665.1:g.38523855C>G	GRCh37
NC_000003.10:g.38498859C>G	NCBI36
NG_011791.1:g.33066C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1213+28C>G MANE Select	ENSP00000340361.3:n.1213+28C>G
ENST00000352511.4:c.1213+28C>G	ENSP00000340361.3:n.1213+28C>G
ENST00000461232.1:n.5002+28C>G
ENST00000465020.5:n.1299+28C>G
NM_001106.3:c.1213+28C>G	NP_001097.2:n.1213+28C>G
XM_005265583.2:c.1276+28C>G	XP_005265640.1:n.1276+28C>G
XM_005265583.3:c.1276+28C>G	XP_005265640.1:n.1276+28C>G
XM_017007514.1:c.1255+28C>G	XP_016863003.1:n.1255+28C>G
XM_017007515.2:c.1231+28C>G	XP_016863004.1:n.1231+28C>G
XM_017007516.1:c.1210+28C>G	XP_016863005.1:n.1210+28C>G
NM_001106.4:c.1213+28C>G MANE Select	NP_001097.2:n.1213+28C>G