Canonical Allele Identifier: CA352134673

Gene: ACVR2B

Linked Data

• COSMIC: COSM6254369 ; COSM6254370
• MyVariant Identifiers: chr3:g.38523817G>T (hg19) ; chr3:g.38482326G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482326G>T , CM000665.2:g.38482326G>T	GRCh38
NC_000003.11:g.38523817G>T , CM000665.1:g.38523817G>T	GRCh37
NC_000003.10:g.38498821G>T	NCBI36
NG_011791.1:g.33028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1203G>T MANE Select	ENSP00000340361.3:p.Lys401Asn
ENST00000352511.4:c.1203G>T	ENSP00000340361.3:p.Lys401Asn
ENST00000461232.1:n.4992G>T
ENST00000465020.5:n.1289G>T
NM_001106.3:c.1203G>T	NP_001097.2:p.Lys401Asn
XM_005265583.2:c.1266G>T	XP_005265640.1:p.Lys422Asn
XM_005265583.3:c.1266G>T	XP_005265640.1:p.Lys422Asn
XM_017007514.1:c.1245G>T	XP_016863003.1:p.Lys415Asn
XM_017007515.2:c.1221G>T	XP_016863004.1:p.Lys407Asn
XM_017007516.1:c.1200G>T	XP_016863005.1:p.Lys400Asn
NM_001106.4:c.1203G>T MANE Select	NP_001097.2:p.Lys401Asn