Canonical Allele Identifier: CA345387660

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918442C>T (hg19) ; chr1:g.236755142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755142C>T , CM000663.2:g.236755142C>T	GRCh38
NC_000001.10:g.236918442C>T , CM000663.1:g.236918442C>T	GRCh37
NC_000001.9:g.234985065C>T	NCBI36
NG_009081.1:g.73673C>T
NG_009081.2:g.96002C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2098C>T	ENSP00000443495.1:p.Gln700Ter
ENST00000461367.2:n.394C>T
ENST00000492634.7:n.2028C>T
ENST00000682015.1:c.2005C>T	ENSP00000506961.1:p.Gln669Ter
ENST00000682692.1:n.3193C>T
ENST00000682966.1:n.7739C>T
ENST00000683111.1:c.*1384C>T	ENSP00000507913.1:n.*1384C>T
ENST00000683322.1:n.3450C>T
ENST00000683805.1:n.889C>T
ENST00000684050.1:n.4736C>T
ENST00000684122.1:n.245C>T
ENST00000684286.1:n.3653C>T
ENST00000684502.1:n.3395C>T
ENST00000684763.1:n.713C>T
ENST00000366578.6:c.2098C>T MANE Select	ENSP00000355537.4:p.Gln700Ter
ENST00000492634.6:n.2028C>T
ENST00000542672.6:c.2098C>T	ENSP00000443495.1:p.Gln700Ter
ENST00000651091.1:c.1788C>T	ENSP00000498677.1:n.1788C>T
ENST00000651275.1:c.1990C>T	ENSP00000498926.1:p.Gln664Ter
ENST00000651781.1:c.1178C>T
ENST00000651786.1:c.*1470C>T	ENSP00000498364.1:n.*1470C>T
ENST00000652096.1:c.*1503C>T	ENSP00000498896.1:n.*1503C>T
ENST00000366578.5:c.2098C>T	ENSP00000355537.4:p.Gln700Ter
ENST00000461367.1:n.307C>T
ENST00000542672.5:c.2098C>T	ENSP00000443495.1:p.Gln700Ter
ENST00000546208.5:c.1474C>T	ENSP00000438384.2:p.Gln492Ter
NM_001103.3:c.2098C>T	NP_001094.1:p.Gln700Ter
NM_001278343.1:c.2098C>T	NP_001265272.1:p.Gln700Ter
NM_001278344.1:c.1474C>T	NP_001265273.1:p.Gln492Ter
NM_001278343.2:c.2098C>T	NP_001265272.1:p.Gln700Ter
NM_001103.4:c.2098C>T MANE Select	NP_001094.1:p.Gln700Ter
NM_001278344.2:c.1474C>T	NP_001265273.1:p.Gln492Ter