Canonical Allele Identifier: CA72926335

Gene: ACVR2B

Linked Data

• dbSNP Id: rs979120415
• gnomAD v4: 3-38482390-GA-G
• MyVariant Identifiers: chr3:g.38523882del (hg19) ; chr3:g.38482391del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482391del , CM000665.2:g.38482391del	GRCh38
NC_000003.11:g.38523882del , CM000665.1:g.38523882del	GRCh37
NC_000003.10:g.38498886del	NCBI36
NG_011791.1:g.33093del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.1214-39del MANE Select	ENSP00000340361.3:n.1214-39del
ENST00000352511.4:c.1214-39del	ENSP00000340361.3:n.1214-39del
ENST00000461232.1:n.5003-39del
ENST00000465020.5:n.1300-39del
NM_001106.3:c.1214-39del	NP_001097.2:n.1214-39del
XM_005265583.2:c.1277-39del	XP_005265640.1:n.1277-39del
XM_005265583.3:c.1277-39del	XP_005265640.1:n.1277-39del
XM_017007514.1:c.1256-39del	XP_016863003.1:n.1256-39del
XM_017007515.2:c.1232-39del	XP_016863004.1:n.1232-39del
XM_017007516.1:c.1211-39del	XP_016863005.1:n.1211-39del
NM_001106.4:c.1214-39del MANE Select	NP_001097.2:n.1214-39del