Canonical Allele Identifier: CA352134671

Gene: ACVR2B

Linked Data

• gnomAD v4: 3-38482325-A-G
• MyVariant Identifiers: chr3:g.38523816A>G (hg19) ; chr3:g.38482325A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482325A>G , CM000665.2:g.38482325A>G	GRCh38
NC_000003.11:g.38523816A>G , CM000665.1:g.38523816A>G	GRCh37
NC_000003.10:g.38498820A>G	NCBI36
NG_011791.1:g.33027A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1202A>G MANE Select	ENSP00000340361.3:p.Lys401Arg
ENST00000352511.4:c.1202A>G	ENSP00000340361.3:p.Lys401Arg
ENST00000461232.1:n.4991A>G
ENST00000465020.5:n.1288A>G
NM_001106.3:c.1202A>G	NP_001097.2:p.Lys401Arg
XM_005265583.2:c.1265A>G	XP_005265640.1:p.Lys422Arg
XM_005265583.3:c.1265A>G	XP_005265640.1:p.Lys422Arg
XM_017007514.1:c.1244A>G	XP_016863003.1:p.Lys415Arg
XM_017007515.2:c.1220A>G	XP_016863004.1:p.Lys407Arg
XM_017007516.1:c.1199A>G	XP_016863005.1:p.Lys400Arg
NM_001106.4:c.1202A>G MANE Select	NP_001097.2:p.Lys401Arg