Canonical Allele Identifier: CA1037621815

Gene: ACVR2A

Linked Data

• dbSNP Id: rs1395916544
• gnomAD v3: 2-147854733-C-A
• gnomAD v4: 2-147854733-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.147854733C>A , CM000664.2:g.147854733C>A	GRCh38
NC_000002.11:g.148612302C>A , CM000664.1:g.148612302C>A	GRCh37
NC_000002.10:g.148328772C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241416.12:c.55+9526C>A MANE Select	ENSP00000241416.7:n.55+9526C>A
ENST00000241416.11:c.55+9526C>A	ENSP00000241416.7:n.55+9526C>A
ENST00000404590.1:c.55+9526C>A	ENSP00000384338.1:n.55+9526C>A
ENST00000462659.1:n.183+10027C>A
ENST00000465329.1:n.179+9526C>A
ENST00000487959.5:n.190+10027C>A
ENST00000535787.5:c.-207+10027C>A	ENSP00000439988.1:n.-207+10027C>A
NM_001278579.1:c.55+9526C>A	NP_001265508.1:n.55+9526C>A
NM_001278580.1:c.-207+10027C>A	NP_001265509.1:n.-207+10027C>A
NM_001616.4:c.55+9526C>A	NP_001607.1:n.55+9526C>A
XM_005263843.2:c.55+9526C>A	XP_005263900.1:n.55+9526C>A
NM_001616.5:c.55+9526C>A MANE Select	NP_001607.1:n.55+9526C>A
NM_001278579.2:c.55+9526C>A	NP_001265508.1:n.55+9526C>A
NM_001278580.2:c.-207+10027C>A	NP_001265509.1:n.-207+10027C>A