Canonical Allele Identifier: CA2547352634

Gene: ACVR2B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482389G>T , CM000665.2:g.38482389G>T	GRCh38
NC_000003.11:g.38523880G>T , CM000665.1:g.38523880G>T	GRCh37
NC_000003.10:g.38498884G>T	NCBI36
NG_011791.1:g.33091G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.1214-41G>T MANE Select	ENSP00000340361.3:n.1214-41G>T
ENST00000352511.4:c.1214-41G>T	ENSP00000340361.3:n.1214-41G>T
ENST00000461232.1:n.5003-41G>T
ENST00000465020.5:n.1300-41G>T
NM_001106.3:c.1214-41G>T	NP_001097.2:n.1214-41G>T
XM_005265583.2:c.1277-41G>T	XP_005265640.1:n.1277-41G>T
XM_005265583.3:c.1277-41G>T	XP_005265640.1:n.1277-41G>T
XM_017007514.1:c.1256-41G>T	XP_016863003.1:n.1256-41G>T
XM_017007515.2:c.1232-41G>T	XP_016863004.1:n.1232-41G>T
XM_017007516.1:c.1211-41G>T	XP_016863005.1:n.1211-41G>T
NM_001106.4:c.1214-41G>T MANE Select	NP_001097.2:n.1214-41G>T