Canonical Allele Identifier: CA57550139

Gene: ACVR2A

Linked Data

• dbSNP Id: rs965419702
• gnomAD v2: 2-148612458-C-CT
• gnomAD v3: 2-147854889-C-CT
• gnomAD v4: 2-147854889-C-CT
• MyVariant Identifiers: chr2:g.148612459_148612460insT (hg19) ; chr2:g.148612458_148612459insT (hg19) ; chr2:g.147854890_147854891insT (hg38) ; chr2:g.147854889_147854890insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.147854899dup , CM000664.2:g.147854899dup	GRCh38
NC_000002.11:g.148612468dup , CM000664.1:g.148612468dup	GRCh37
NC_000002.10:g.148328938dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241416.12:c.55+9692dup MANE Select	ENSP00000241416.7:n.55+9692dup
ENST00000241416.11:c.55+9692dup	ENSP00000241416.7:n.55+9692dup
ENST00000404590.1:c.55+9692dup	ENSP00000384338.1:n.55+9692dup
ENST00000462659.1:n.183+10193dup
ENST00000465329.1:n.179+9692dup
ENST00000487959.5:n.190+10193dup
ENST00000535787.5:c.-207+10193dup	ENSP00000439988.1:n.-207+10193dup
NM_001278579.1:c.55+9692dup	NP_001265508.1:n.55+9692dup
NM_001278580.1:c.-207+10193dup	NP_001265509.1:n.-207+10193dup
NM_001616.4:c.55+9692dup	NP_001607.1:n.55+9692dup
XM_005263843.2:c.55+9692dup	XP_005263900.1:n.55+9692dup
NM_001616.5:c.55+9692dup MANE Select	NP_001607.1:n.55+9692dup
NM_001278579.2:c.55+9692dup	NP_001265508.1:n.55+9692dup
NM_001278580.2:c.-207+10193dup	NP_001265509.1:n.-207+10193dup