Canonical Allele Identifier: CA1296492129

Gene: ACVR2A

Linked Data

• dbSNP Id: rs1685530037

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.147854841_147854842del , CM000664.2:g.147854841_147854842del	GRCh38
NC_000002.11:g.148612410_148612411del , CM000664.1:g.148612410_148612411del	GRCh37
NC_000002.10:g.148328880_148328881del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241416.12:c.55+9634_55+9635del MANE Select	ENSP00000241416.7:n.55+9634_55+9635del
ENST00000241416.11:c.55+9634_55+9635del	ENSP00000241416.7:n.55+9634_55+9635del
ENST00000404590.1:c.55+9634_55+9635del	ENSP00000384338.1:n.55+9634_55+9635del
ENST00000462659.1:n.183+10135_183+10136del
ENST00000465329.1:n.179+9634_179+9635del
ENST00000487959.5:n.190+10135_190+10136del
ENST00000535787.5:c.-207+10135_-207+10136del	ENSP00000439988.1:n.-207+10135_-207+10136del
NM_001278579.1:c.55+9634_55+9635del	NP_001265508.1:n.55+9634_55+9635del
NM_001278580.1:c.-207+10135_-207+10136del	NP_001265509.1:n.-207+10135_-207+10136del
NM_001616.4:c.55+9634_55+9635del	NP_001607.1:n.55+9634_55+9635del
XM_005263843.2:c.55+9634_55+9635del	XP_005263900.1:n.55+9634_55+9635del
NM_001616.5:c.55+9634_55+9635del MANE Select	NP_001607.1:n.55+9634_55+9635del
NM_001278579.2:c.55+9634_55+9635del	NP_001265508.1:n.55+9634_55+9635del
NM_001278580.2:c.-207+10135_-207+10136del	NP_001265509.1:n.-207+10135_-207+10136del