Canonical Allele Identifier: CA345373678

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236882301A>C (hg19) ; chr1:g.236719001A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236719001A>C , CM000663.2:g.236719001A>C	GRCh38
NC_000001.10:g.236882301A>C , CM000663.1:g.236882301A>C	GRCh37
NC_000001.9:g.234948924A>C	NCBI36
NG_009081.1:g.37532A>C
NG_009081.2:g.59861A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.349A>C	ENSP00000443495.1:p.Ile117Leu
ENST00000492634.7:n.444A>C
ENST00000494762.2:n.98A>C
ENST00000682015.1:c.349A>C	ENSP00000506961.1:p.Ile117Leu
ENST00000682692.1:n.349A>C
ENST00000682966.1:n.348A>C
ENST00000683075.1:n.288A>C
ENST00000683111.1:c.292A>C	ENSP00000507913.1:p.Ile98Leu
ENST00000684050.1:n.384A>C
ENST00000684286.1:n.417A>C
ENST00000684502.1:n.384A>C
ENST00000366578.6:c.349A>C MANE Select	ENSP00000355537.4:p.Ile117Leu
ENST00000492634.6:n.444A>C
ENST00000542672.6:c.349A>C	ENSP00000443495.1:p.Ile117Leu
ENST00000651091.1:c.292A>C	ENSP00000498677.1:p.Ile98Leu
ENST00000651187.1:c.133A>C	ENSP00000498348.1:p.Ile45Leu
ENST00000651275.1:c.334A>C	ENSP00000498926.1:p.Ile112Leu
ENST00000651786.1:c.349A>C	ENSP00000498364.1:p.Ile117Leu
ENST00000652096.1:c.349A>C	ENSP00000498896.1:p.Ile117Leu
ENST00000366578.5:c.349A>C	ENSP00000355537.4:p.Ile117Leu
ENST00000492634.5:n.496A>C
ENST00000542672.5:c.349A>C	ENSP00000443495.1:p.Ile117Leu
ENST00000546208.5:c.-473A>C	ENSP00000438384.2:n.-473A>C
NM_001103.3:c.349A>C	NP_001094.1:p.Ile117Leu
NM_001278343.1:c.349A>C	NP_001265272.1:p.Ile117Leu
NM_001278344.1:c.-473A>C	NP_001265273.1:n.-473A>C
NM_001278343.2:c.349A>C	NP_001265272.1:p.Ile117Leu
NM_001103.4:c.349A>C MANE Select	NP_001094.1:p.Ile117Leu
NM_001278344.2:c.-473A>C	NP_001265273.1:n.-473A>C