Canonical Allele Identifier: CA1358531415

Gene: ACVR2B

Linked Data

• dbSNP Id: rs1710033632
• gnomAD v4: 3-38482412-GCTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482417_38482420del , CM000665.2:g.38482417_38482420del	GRCh38
NC_000003.11:g.38523908_38523911del , CM000665.1:g.38523908_38523911del	GRCh37
NC_000003.10:g.38498912_38498915del	NCBI36
NG_011791.1:g.33119_33122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1214-13_1214-10del MANE Select	ENSP00000340361.3:n.1214-13_1214-10del
ENST00000352511.4:c.1214-13_1214-10del	ENSP00000340361.3:n.1214-13_1214-10del
ENST00000461232.1:n.5003-13_5003-10del
ENST00000465020.5:n.1300-13_1300-10del
NM_001106.3:c.1214-13_1214-10del	NP_001097.2:n.1214-13_1214-10del
XM_005265583.2:c.1277-13_1277-10del	XP_005265640.1:n.1277-13_1277-10del
XM_005265583.3:c.1277-13_1277-10del	XP_005265640.1:n.1277-13_1277-10del
XM_017007514.1:c.1256-13_1256-10del	XP_016863003.1:n.1256-13_1256-10del
XM_017007515.2:c.1232-13_1232-10del	XP_016863004.1:n.1232-13_1232-10del
XM_017007516.1:c.1211-13_1211-10del	XP_016863005.1:n.1211-13_1211-10del
NM_001106.4:c.1214-13_1214-10del MANE Select	NP_001097.2:n.1214-13_1214-10del