Canonical Allele Identifier: CA345392092

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925776G>T (hg19) ; chr1:g.236762476G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762476G>T , CM000663.2:g.236762476G>T	GRCh38
NC_000001.10:g.236925776G>T , CM000663.1:g.236925776G>T	GRCh37
NC_000001.9:g.234992399G>T	NCBI36
NG_009081.1:g.81007G>T
NG_009081.2:g.103336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2542G>T	ENSP00000443495.1:p.Glu848Ter
ENST00000461367.2:n.838G>T
ENST00000492634.7:n.2472G>T
ENST00000682015.1:c.2449G>T	ENSP00000506961.1:p.Glu817Ter
ENST00000682490.1:n.460G>T
ENST00000682692.1:n.3637G>T
ENST00000682966.1:n.8183G>T
ENST00000683111.1:c.*1828G>T	ENSP00000507913.1:n.*1828G>T
ENST00000683322.1:n.3894G>T
ENST00000683805.1:n.1333G>T
ENST00000684050.1:n.5180G>T
ENST00000684122.1:n.1976G>T
ENST00000684286.1:n.4097G>T
ENST00000684502.1:n.3839G>T
ENST00000684763.1:n.1157G>T
ENST00000366578.6:c.2542G>T MANE Select	ENSP00000355537.4:p.Glu848Ter
ENST00000492634.6:n.2472G>T
ENST00000542672.6:c.2542G>T	ENSP00000443495.1:p.Glu848Ter
ENST00000651091.1:c.2232G>T	ENSP00000498677.1:n.2232G>T
ENST00000651275.1:c.2434G>T	ENSP00000498926.1:p.Glu812Ter
ENST00000651781.1:c.1622G>T
ENST00000651786.1:c.*1914G>T	ENSP00000498364.1:n.*1914G>T
ENST00000652096.1:c.*1947G>T	ENSP00000498896.1:n.*1947G>T
ENST00000366578.5:c.2542G>T	ENSP00000355537.4:p.Glu848Ter
ENST00000461367.1:n.751G>T
ENST00000542672.5:c.2542G>T	ENSP00000443495.1:p.Glu848Ter
ENST00000546208.5:c.1918G>T	ENSP00000438384.2:p.Glu640Ter
NM_001103.3:c.2542G>T	NP_001094.1:p.Glu848Ter
NM_001278343.1:c.2542G>T	NP_001265272.1:p.Glu848Ter
NM_001278344.1:c.1918G>T	NP_001265273.1:p.Glu640Ter
NM_001278343.2:c.2542G>T	NP_001265272.1:p.Glu848Ter
NM_001103.4:c.2542G>T MANE Select	NP_001094.1:p.Glu848Ter
NM_001278344.2:c.1918G>T	NP_001265273.1:p.Glu640Ter