Canonical Allele Identifier: CA15163948
Gene: ACVR2A HGNC NCBI
COSMIC:
COSN17209846 (not active)
MyVariant.info:
GRCh38 chr2:g.147885549C>T
GRCh37 chr2:g.148643118C>T
gnomAD v2:
2:148643118 C / T
gnomAD v3:
2:147885549 C / T
gnomAD v4:
chr2-147885549-C-T
Joint Max Group AF 0.19112648 (NFE)
Genomes Max Group AF 0.19112648 (NFE)
dbSNP:
1424941
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.147885549C>T , CM000664.2:g.147885549C>T GRCh38
NC_000002.11:g.148643118C>T , CM000664.1:g.148643118C>T GRCh37
NC_000002.10:g.148359588C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000241416.12:c.56-10752C>T MANE Select ENSP00000241416.7:n.56-10752C>T
ENST00000241416.11:c.56-10752C>T ENSP00000241416.7:n.56-10752C>T
ENST00000404590.1:c.56-10752C>T ENSP00000384338.1:n.56-10752C>T
ENST00000462659.1:n.184-10752C>T
ENST00000465329.1:n.180-10752C>T
ENST00000487959.5:n.191-10815C>T
ENST00000535787.5:c.-206-10815C>T ENSP00000439988.1:n.-206-10815C>T
NM_001278579.1:c.56-10752C>T NP_001265508.1:n.56-10752C>T
NM_001278580.1:c.-206-10815C>T NP_001265509.1:n.-206-10815C>T
NM_001616.4:c.56-10752C>T NP_001607.1:n.56-10752C>T
XM_005263843.2:c.56-10752C>T XP_005263900.1:n.56-10752C>T
XR_923436.1:n.301+14881G>A
NM_001616.5:c.56-10752C>T MANE Select NP_001607.1:n.56-10752C>T
NM_001278579.2:c.56-10752C>T NP_001265508.1:n.56-10752C>T
NM_001278580.2:c.-206-10815C>T NP_001265509.1:n.-206-10815C>T
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