Canonical Allele Identifier: CA1037621885

Gene: ACVR2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.147854900_147854904del , CM000664.2:g.147854900_147854904del	GRCh38
NC_000002.11:g.148612469_148612473del , CM000664.1:g.148612469_148612473del	GRCh37
NC_000002.10:g.148328939_148328943del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241416.12:c.55+9693_55+9697del MANE Select	ENSP00000241416.7:n.55+9693_55+9697del
ENST00000241416.11:c.55+9693_55+9697del	ENSP00000241416.7:n.55+9693_55+9697del
ENST00000404590.1:c.55+9693_55+9697del	ENSP00000384338.1:n.55+9693_55+9697del
ENST00000462659.1:n.183+10194_183+10198del
ENST00000465329.1:n.179+9693_179+9697del
ENST00000487959.5:n.190+10194_190+10198del
ENST00000535787.5:c.-207+10194_-207+10198del	ENSP00000439988.1:n.-207+10194_-207+10198del
NM_001278579.1:c.55+9693_55+9697del	NP_001265508.1:n.55+9693_55+9697del
NM_001278580.1:c.-207+10194_-207+10198del	NP_001265509.1:n.-207+10194_-207+10198del
NM_001616.4:c.55+9693_55+9697del	NP_001607.1:n.55+9693_55+9697del
XM_005263843.2:c.55+9693_55+9697del	XP_005263900.1:n.55+9693_55+9697del
NM_001616.5:c.55+9693_55+9697del MANE Select	NP_001607.1:n.55+9693_55+9697del
NM_001278579.2:c.55+9693_55+9697del	NP_001265508.1:n.55+9693_55+9697del
NM_001278580.2:c.-207+10194_-207+10198del	NP_001265509.1:n.-207+10194_-207+10198del