Canonical Allele Identifier: CA2752598186

Gene: ACVR2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.147854730A>T , CM000664.2:g.147854730A>T	GRCh38
NC_000002.11:g.148612299A>T , CM000664.1:g.148612299A>T	GRCh37
NC_000002.10:g.148328769A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241416.12:c.55+9523A>T MANE Select	ENSP00000241416.7:n.55+9523A>T
ENST00000241416.11:c.55+9523A>T	ENSP00000241416.7:n.55+9523A>T
ENST00000404590.1:c.55+9523A>T	ENSP00000384338.1:n.55+9523A>T
ENST00000462659.1:n.183+10024A>T
ENST00000465329.1:n.179+9523A>T
ENST00000487959.5:n.190+10024A>T
ENST00000535787.5:c.-207+10024A>T	ENSP00000439988.1:n.-207+10024A>T
NM_001278579.1:c.55+9523A>T	NP_001265508.1:n.55+9523A>T
NM_001278580.1:c.-207+10024A>T	NP_001265509.1:n.-207+10024A>T
NM_001616.4:c.55+9523A>T	NP_001607.1:n.55+9523A>T
XM_005263843.2:c.55+9523A>T	XP_005263900.1:n.55+9523A>T
NM_001616.5:c.55+9523A>T MANE Select	NP_001607.1:n.55+9523A>T
NM_001278579.2:c.55+9523A>T	NP_001265508.1:n.55+9523A>T
NM_001278580.2:c.-207+10024A>T	NP_001265509.1:n.-207+10024A>T