Canonical Allele Identifier: CA72914459
Gene: ACVR2B HGNC NCBI

Linked Data

dbSNP Id: rs485154
MyVariant Identifiers: chr3:g.38505957G>C (hg19) chr3:g.38464466G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38464466G>C , CM000665.2:g.38464466G>C GRCh38
NC_000003.11:g.38505957G>C , CM000665.1:g.38505957G>C GRCh37
NC_000003.10:g.38480961G>C NCBI36
NG_011791.1:g.15168G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000352511.5:c.52+10092G>C MANE Select ENSP00000340361.3:n.52+10092G>C
ENST00000352511.4:c.52+10092G>C ENSP00000340361.3:n.52+10092G>C
ENST00000465020.5:n.56+10092G>C
NM_001106.3:c.52+10092G>C NP_001097.2:n.52+10092G>C
XM_005265583.2:c.115+4777G>C XP_005265640.1:n.115+4777G>C
XM_005265583.3:c.115+4777G>C XP_005265640.1:n.115+4777G>C
XM_017007514.1:c.94+4798G>C XP_016863003.1:n.94+4798G>C
XM_017007515.2:c.70+9782G>C XP_016863004.1:n.70+9782G>C
NM_001106.4:c.52+10092G>C MANE Select NP_001097.2:n.52+10092G>C
Search 100 bp 5'
Search 100 bp 3'