Canonical Allele Identifier: CA2665095810

Gene: ACVR2B

Linked Data

• gnomAD v4: 3-38482510-G-GAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482510_38482511insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA , CM000665.2:g.38482510_38482511insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA	GRCh38
NC_000003.11:g.38524001_38524002insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA , CM000665.1:g.38524001_38524002insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA	GRCh37
NC_000003.10:g.38499005_38499006insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA	NCBI36
NG_011791.1:g.33212_33213insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1294_1295insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA MANE Select	ENSP00000340361.3:p.Val432GlufsTer7
ENST00000352511.4:c.1294_1295insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA	ENSP00000340361.3:p.Val432GlufsTer7
ENST00000461232.1:n.5083_5084insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA
ENST00000465020.5:n.1380_1381insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA
NM_001106.3:c.1294_1295insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA	NP_001097.2:p.Val432GlufsTer7
XM_005265583.2:c.1357_1358insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA	XP_005265640.1:p.Val453GlufsTer7
XM_005265583.3:c.1357_1358insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA	XP_005265640.1:p.Val453GlufsTer7
XM_017007514.1:c.1336_1337insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA	XP_016863003.1:p.Val446GlufsTer7
XM_017007515.2:c.1312_1313insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA	XP_016863004.1:p.Val438GlufsTer7
XM_017007516.1:c.1291_1292insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA	XP_016863005.1:p.Val431GlufsTer7
NM_001106.4:c.1294_1295insAAAGAACCTGGAAAAAGTAACTAAAAATTAAACTTAGGAAATCA MANE Select	NP_001097.2:p.Val432GlufsTer7