Canonical Allele Identifier: CA72914433
Gene: ACVR2B HGNC NCBI

Linked Data

dbSNP Id: rs485039
MyVariant Identifiers: chr3:g.38505909T>C (hg19) chr3:g.38464418T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38464418T>C , CM000665.2:g.38464418T>C GRCh38
NC_000003.11:g.38505909T>C , CM000665.1:g.38505909T>C GRCh37
NC_000003.10:g.38480913T>C NCBI36
NG_011791.1:g.15120T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000352511.5:c.52+10044T>C MANE Select ENSP00000340361.3:n.52+10044T>C
ENST00000352511.4:c.52+10044T>C ENSP00000340361.3:n.52+10044T>C
ENST00000465020.5:n.56+10044T>C
NM_001106.3:c.52+10044T>C NP_001097.2:n.52+10044T>C
XM_005265583.2:c.115+4729T>C XP_005265640.1:n.115+4729T>C
XM_005265583.3:c.115+4729T>C XP_005265640.1:n.115+4729T>C
XM_017007514.1:c.94+4750T>C XP_016863003.1:n.94+4750T>C
XM_017007515.2:c.70+9734T>C XP_016863004.1:n.70+9734T>C
NM_001106.4:c.52+10044T>C MANE Select NP_001097.2:n.52+10044T>C
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