Canonical Allele Identifier: CA2577552518
Gene: ACVR2B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38482413C>A , CM000665.2:g.38482413C>A GRCh38
NC_000003.11:g.38523904C>A , CM000665.1:g.38523904C>A GRCh37
NC_000003.10:g.38498908C>A NCBI36
NG_011791.1:g.33115C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352511.5:c.1214-17C>A MANE Select ENSP00000340361.3:n.1214-17C>A
ENST00000352511.4:c.1214-17C>A ENSP00000340361.3:n.1214-17C>A
ENST00000461232.1:n.5003-17C>A
ENST00000465020.5:n.1300-17C>A
NM_001106.3:c.1214-17C>A NP_001097.2:n.1214-17C>A
XM_005265583.2:c.1277-17C>A XP_005265640.1:n.1277-17C>A
XM_005265583.3:c.1277-17C>A XP_005265640.1:n.1277-17C>A
XM_017007514.1:c.1256-17C>A XP_016863003.1:n.1256-17C>A
XM_017007515.2:c.1232-17C>A XP_016863004.1:n.1232-17C>A
XM_017007516.1:c.1211-17C>A XP_016863005.1:n.1211-17C>A
NM_001106.4:c.1214-17C>A MANE Select NP_001097.2:n.1214-17C>A
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