Canonical Allele Identifier: CA352134807

Gene: ACVR2B

Linked Data

• dbSNP Id: rs1710035227
• MyVariant Identifiers: chr3:g.38523965C>T (hg19) ; chr3:g.38482474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482474C>T , CM000665.2:g.38482474C>T	GRCh38
NC_000003.11:g.38523965C>T , CM000665.1:g.38523965C>T	GRCh37
NC_000003.10:g.38498969C>T	NCBI36
NG_011791.1:g.33176C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1258C>T MANE Select	ENSP00000340361.3:p.Gln420Ter
ENST00000352511.4:c.1258C>T	ENSP00000340361.3:p.Gln420Ter
ENST00000461232.1:n.5047C>T
ENST00000465020.5:n.1344C>T
NM_001106.3:c.1258C>T	NP_001097.2:p.Gln420Ter
XM_005265583.2:c.1321C>T	XP_005265640.1:p.Gln441Ter
XM_005265583.3:c.1321C>T	XP_005265640.1:p.Gln441Ter
XM_017007514.1:c.1300C>T	XP_016863003.1:p.Gln434Ter
XM_017007515.2:c.1276C>T	XP_016863004.1:p.Gln426Ter
XM_017007516.1:c.1255C>T	XP_016863005.1:p.Gln419Ter
NM_001106.4:c.1258C>T MANE Select	NP_001097.2:p.Gln420Ter