Canonical Allele Identifier: CA1139657941

Gene: ACVR2B

Linked Data

• ClinVar Variation Id: 900230
• ClinVar RCV Id: RCV001145277
• dbSNP Id: rs1710032107
• gnomAD v4: 3-38482350-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482350C>T , CM000665.2:g.38482350C>T	GRCh38
NC_000003.11:g.38523841C>T , CM000665.1:g.38523841C>T	GRCh37
NC_000003.10:g.38498845C>T	NCBI36
NG_011791.1:g.33052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1213+14C>T MANE Select	ENSP00000340361.3:n.1213+14C>T
ENST00000352511.4:c.1213+14C>T	ENSP00000340361.3:n.1213+14C>T
ENST00000461232.1:n.5002+14C>T
ENST00000465020.5:n.1299+14C>T
NM_001106.3:c.1213+14C>T	NP_001097.2:n.1213+14C>T
XM_005265583.2:c.1276+14C>T	XP_005265640.1:n.1276+14C>T
XM_005265583.3:c.1276+14C>T	XP_005265640.1:n.1276+14C>T
XM_017007514.1:c.1255+14C>T	XP_016863003.1:n.1255+14C>T
XM_017007515.2:c.1231+14C>T	XP_016863004.1:n.1231+14C>T
XM_017007516.1:c.1210+14C>T	XP_016863005.1:n.1210+14C>T
NM_001106.4:c.1213+14C>T MANE Select	NP_001097.2:n.1213+14C>T