Canonical Allele Identifier: CA1358531393
Gene: ACVR2B HGNC NCBI

Linked Data

dbSNP Id: rs1365295897

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38482399G>C , CM000665.2:g.38482399G>C GRCh38
NC_000003.11:g.38523890G>C , CM000665.1:g.38523890G>C GRCh37
NC_000003.10:g.38498894G>C NCBI36
NG_011791.1:g.33101G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000352511.5:c.1214-31G>C MANE Select ENSP00000340361.3:n.1214-31G>C
ENST00000352511.4:c.1214-31G>C ENSP00000340361.3:n.1214-31G>C
ENST00000461232.1:n.5003-31G>C
ENST00000465020.5:n.1300-31G>C
NM_001106.3:c.1214-31G>C NP_001097.2:n.1214-31G>C
XM_005265583.2:c.1277-31G>C XP_005265640.1:n.1277-31G>C
XM_005265583.3:c.1277-31G>C XP_005265640.1:n.1277-31G>C
XM_017007514.1:c.1256-31G>C XP_016863003.1:n.1256-31G>C
XM_017007515.2:c.1232-31G>C XP_016863004.1:n.1232-31G>C
XM_017007516.1:c.1211-31G>C XP_016863005.1:n.1211-31G>C
NM_001106.4:c.1214-31G>C MANE Select NP_001097.2:n.1214-31G>C