Canonical Allele Identifier: CA10615730

Gene: ACVR2B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38484906_38484911del , CM000665.2:g.38484906_38484911del	GRCh38
NC_000003.11:g.38526397_38526402del , CM000665.1:g.38526397_38526402del	GRCh37
NC_000003.10:g.38501401_38501406del	NCBI36
NG_011791.1:g.35608_35613del

Transcript Alleles

HGVS	Amino-acid Change
NM_001106.4:c.*1574_*1579del MANE Select	NP_001097.2:n.*1574_*1579del
ENST00000352511.5:c.*1574_*1579del MANE Select	ENSP00000340361.3:n.*1574_*1579del
NM_001106.3:c.*1574_*1579del	NP_001097.2:n.*1574_*1579del
ENST00000352511.4:c.*1574_*1579del	ENSP00000340361.3:n.*1574_*1579del
XM_005265583.2:c.*1574_*1579del	XP_005265640.1:n.*1574_*1579del
XM_005265583.3:c.*1574_*1579del	XP_005265640.1:n.*1574_*1579del
XM_017007514.1:c.*1574_*1579del	XP_016863003.1:n.*1574_*1579del
XM_017007515.2:c.*1574_*1579del	XP_016863004.1:n.*1574_*1579del
XM_017007516.1:c.*1574_*1579del	XP_016863005.1:n.*1574_*1579del