Canonical Allele Identifier: CA2665095372

Gene: ACVR2B

Linked Data

• gnomAD v4: 3-38481311-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38481311C>A , CM000665.2:g.38481311C>A	GRCh38
NC_000003.11:g.38522802C>A , CM000665.1:g.38522802C>A	GRCh37
NC_000003.10:g.38497806C>A	NCBI36
NG_011791.1:g.32013C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.960-40C>A MANE Select	ENSP00000340361.3:n.960-40C>A
ENST00000352511.4:c.960-40C>A	ENSP00000340361.3:n.960-40C>A
ENST00000461232.1:n.4749-40C>A
ENST00000465020.5:n.1046-40C>A
NM_001106.3:c.960-40C>A	NP_001097.2:n.960-40C>A
XM_005265583.2:c.1023-40C>A	XP_005265640.1:n.1023-40C>A
XM_005265583.3:c.1023-40C>A	XP_005265640.1:n.1023-40C>A
XM_017007514.1:c.1002-40C>A	XP_016863003.1:n.1002-40C>A
XM_017007515.2:c.978-40C>A	XP_016863004.1:n.978-40C>A
XM_017007516.1:c.957-40C>A	XP_016863005.1:n.957-40C>A
NM_001106.4:c.960-40C>A MANE Select	NP_001097.2:n.960-40C>A