Canonical Allele Identifier: CA1296492004
Gene: ACVR2A HGNC NCBI

Linked Data

dbSNP Id: rs1685522187

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.147854549del , CM000664.2:g.147854549del GRCh38
NC_000002.11:g.148612118del , CM000664.1:g.148612118del GRCh37
NC_000002.10:g.148328588del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000241416.12:c.55+9342del MANE Select ENSP00000241416.7:n.55+9342del
ENST00000241416.11:c.55+9342del ENSP00000241416.7:n.55+9342del
ENST00000404590.1:c.55+9342del ENSP00000384338.1:n.55+9342del
ENST00000462659.1:n.183+9843del
ENST00000465329.1:n.179+9342del
ENST00000487959.5:n.190+9843del
ENST00000535787.5:c.-207+9843del ENSP00000439988.1:n.-207+9843del
NM_001278579.1:c.55+9342del NP_001265508.1:n.55+9342del
NM_001278580.1:c.-207+9843del NP_001265509.1:n.-207+9843del
NM_001616.4:c.55+9342del NP_001607.1:n.55+9342del
XM_005263843.2:c.55+9342del XP_005263900.1:n.55+9342del
NM_001616.5:c.55+9342del MANE Select NP_001607.1:n.55+9342del
NM_001278579.2:c.55+9342del NP_001265508.1:n.55+9342del
NM_001278580.2:c.-207+9843del NP_001265509.1:n.-207+9843del