Canonical Allele Identifier: CA2577552517

Gene: ACVR2B

Linked Data

• gnomAD v4: 3-38482409-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482409C>T , CM000665.2:g.38482409C>T	GRCh38
NC_000003.11:g.38523900C>T , CM000665.1:g.38523900C>T	GRCh37
NC_000003.10:g.38498904C>T	NCBI36
NG_011791.1:g.33111C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.1214-21C>T MANE Select	ENSP00000340361.3:n.1214-21C>T
ENST00000352511.4:c.1214-21C>T	ENSP00000340361.3:n.1214-21C>T
ENST00000461232.1:n.5003-21C>T
ENST00000465020.5:n.1300-21C>T
NM_001106.3:c.1214-21C>T	NP_001097.2:n.1214-21C>T
XM_005265583.2:c.1277-21C>T	XP_005265640.1:n.1277-21C>T
XM_005265583.3:c.1277-21C>T	XP_005265640.1:n.1277-21C>T
XM_017007514.1:c.1256-21C>T	XP_016863003.1:n.1256-21C>T
XM_017007515.2:c.1232-21C>T	XP_016863004.1:n.1232-21C>T
XM_017007516.1:c.1211-21C>T	XP_016863005.1:n.1211-21C>T
NM_001106.4:c.1214-21C>T MANE Select	NP_001097.2:n.1214-21C>T