Canonical Allele Identifier: CA1296492117

Gene: ACVR2A

Linked Data

• dbSNP Id: rs1685529496

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.147854812_147854817del , CM000664.2:g.147854812_147854817del	GRCh38
NC_000002.11:g.148612381_148612386del , CM000664.1:g.148612381_148612386del	GRCh37
NC_000002.10:g.148328851_148328856del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241416.12:c.55+9605_55+9610del MANE Select	ENSP00000241416.7:n.55+9605_55+9610del
ENST00000241416.11:c.55+9605_55+9610del	ENSP00000241416.7:n.55+9605_55+9610del
ENST00000404590.1:c.55+9605_55+9610del	ENSP00000384338.1:n.55+9605_55+9610del
ENST00000462659.1:n.183+10106_183+10111del
ENST00000465329.1:n.179+9605_179+9610del
ENST00000487959.5:n.190+10106_190+10111del
ENST00000535787.5:c.-207+10106_-207+10111del	ENSP00000439988.1:n.-207+10106_-207+10111del
NM_001278579.1:c.55+9605_55+9610del	NP_001265508.1:n.55+9605_55+9610del
NM_001278580.1:c.-207+10106_-207+10111del	NP_001265509.1:n.-207+10106_-207+10111del
NM_001616.4:c.55+9605_55+9610del	NP_001607.1:n.55+9605_55+9610del
XM_005263843.2:c.55+9605_55+9610del	XP_005263900.1:n.55+9605_55+9610del
NM_001616.5:c.55+9605_55+9610del MANE Select	NP_001607.1:n.55+9605_55+9610del
NM_001278579.2:c.55+9605_55+9610del	NP_001265508.1:n.55+9605_55+9610del
NM_001278580.2:c.-207+10106_-207+10111del	NP_001265509.1:n.-207+10106_-207+10111del