Canonical Allele Identifier: CA1358531414

Gene: ACVR2B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482412_38482416delinsGCTCT , CM000665.2:g.38482412_38482416delinsGCTCT	GRCh38
NC_000003.11:g.38523903_38523907delinsGCTCT , CM000665.1:g.38523903_38523907delinsGCTCT	GRCh37
NC_000003.10:g.38498907_38498911delinsGCTCT	NCBI36
NG_011791.1:g.33114_33118delinsGCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1214-18_1214-14delinsGCTCT MANE Select	ENSP00000340361.3:n.1214-18_1214-14delinsGCTCT
ENST00000352511.4:c.1214-18_1214-14delinsGCTCT	ENSP00000340361.3:n.1214-18_1214-14delinsGCTCT
ENST00000461232.1:n.5003-18_5003-14delinsGCTCT
ENST00000465020.5:n.1300-18_1300-14delinsGCTCT
NM_001106.3:c.1214-18_1214-14delinsGCTCT	NP_001097.2:n.1214-18_1214-14delinsGCTCT
XM_005265583.2:c.1277-18_1277-14delinsGCTCT	XP_005265640.1:n.1277-18_1277-14delinsGCTCT
XM_005265583.3:c.1277-18_1277-14delinsGCTCT	XP_005265640.1:n.1277-18_1277-14delinsGCTCT
XM_017007514.1:c.1256-18_1256-14delinsGCTCT	XP_016863003.1:n.1256-18_1256-14delinsGCTCT
XM_017007515.2:c.1232-18_1232-14delinsGCTCT	XP_016863004.1:n.1232-18_1232-14delinsGCTCT
XM_017007516.1:c.1211-18_1211-14delinsGCTCT	XP_016863005.1:n.1211-18_1211-14delinsGCTCT
NM_001106.4:c.1214-18_1214-14delinsGCTCT MANE Select	NP_001097.2:n.1214-18_1214-14delinsGCTCT