Canonical Allele Identifier: CA1358531374
Gene: ACVR2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38482390_38482391delinsGA , CM000665.2:g.38482390_38482391delinsGA GRCh38
NC_000003.11:g.38523881_38523882delinsGA , CM000665.1:g.38523881_38523882delinsGA GRCh37
NC_000003.10:g.38498885_38498886delinsGA NCBI36
NG_011791.1:g.33092_33093delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000352511.5:c.1214-40_1214-39delinsGA MANE Select ENSP00000340361.3:n.1214-40_1214-39delinsGA
ENST00000352511.4:c.1214-40_1214-39delinsGA ENSP00000340361.3:n.1214-40_1214-39delinsGA
ENST00000461232.1:n.5003-40_5003-39delinsGA
ENST00000465020.5:n.1300-40_1300-39delinsGA
NM_001106.3:c.1214-40_1214-39delinsGA NP_001097.2:n.1214-40_1214-39delinsGA
XM_005265583.2:c.1277-40_1277-39delinsGA XP_005265640.1:n.1277-40_1277-39delinsGA
XM_005265583.3:c.1277-40_1277-39delinsGA XP_005265640.1:n.1277-40_1277-39delinsGA
XM_017007514.1:c.1256-40_1256-39delinsGA XP_016863003.1:n.1256-40_1256-39delinsGA
XM_017007515.2:c.1232-40_1232-39delinsGA XP_016863004.1:n.1232-40_1232-39delinsGA
XM_017007516.1:c.1211-40_1211-39delinsGA XP_016863005.1:n.1211-40_1211-39delinsGA
NM_001106.4:c.1214-40_1214-39delinsGA MANE Select NP_001097.2:n.1214-40_1214-39delinsGA