Canonical Allele Identifier: CA57575827

Gene: ACVR2A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.147891817G>A , CM000664.2:g.147891817G>A	GRCh38
NC_000002.11:g.148649386G>A , CM000664.1:g.148649386G>A	GRCh37
NC_000002.10:g.148365856G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241416.12:c.56-4484G>A MANE Select	ENSP00000241416.7:n.56-4484G>A
ENST00000241416.11:c.56-4484G>A	ENSP00000241416.7:n.56-4484G>A
ENST00000404590.1:c.56-4484G>A	ENSP00000384338.1:n.56-4484G>A
ENST00000462659.1:n.184-4484G>A
ENST00000465329.1:n.180-4484G>A
ENST00000487959.5:n.191-4547G>A
ENST00000535787.5:c.-206-4547G>A	ENSP00000439988.1:n.-206-4547G>A
NM_001278579.1:c.56-4484G>A	NP_001265508.1:n.56-4484G>A
NM_001278580.1:c.-206-4547G>A	NP_001265509.1:n.-206-4547G>A
NM_001616.4:c.56-4484G>A	NP_001607.1:n.56-4484G>A
XM_005263843.2:c.56-4484G>A	XP_005263900.1:n.56-4484G>A
XR_923436.1:n.301+8613C>T
NM_001616.5:c.56-4484G>A MANE Select	NP_001607.1:n.56-4484G>A
NM_001278579.2:c.56-4484G>A	NP_001265508.1:n.56-4484G>A
NM_001278580.2:c.-206-4547G>A	NP_001265509.1:n.-206-4547G>A