Canonical Allele Identifier: CA423811125

Gene: ACTN2

Linked Data

• dbSNP Id: rs1572153340
• MyVariant Identifiers: chr1:g.236925799C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762499C>T , CM000663.2:g.236762499C>T	GRCh38
NC_000001.10:g.236925799C>T , CM000663.1:g.236925799C>T	GRCh37
NC_000001.9:g.234992422C>T	NCBI36
NG_009081.1:g.81030C>T
NG_009081.2:g.103359C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2565C>T	ENSP00000443495.1:p.Pro855=
ENST00000461367.2:n.861C>T
ENST00000492634.7:n.2495C>T
ENST00000682015.1:c.2472C>T	ENSP00000506961.1:p.Pro824=
ENST00000682490.1:n.483C>T
ENST00000682692.1:n.3660C>T
ENST00000682966.1:n.8206C>T
ENST00000683111.1:c.*1851C>T	ENSP00000507913.1:n.*1851C>T
ENST00000683322.1:n.3917C>T
ENST00000683805.1:n.1356C>T
ENST00000684050.1:n.5203C>T
ENST00000684122.1:n.1999C>T
ENST00000684286.1:n.4120C>T
ENST00000684502.1:n.3862C>T
ENST00000684763.1:n.1180C>T
ENST00000366578.6:c.2565C>T MANE Select	ENSP00000355537.4:p.Pro855=
ENST00000492634.6:n.2495C>T
ENST00000542672.6:c.2565C>T	ENSP00000443495.1:p.Pro855=
ENST00000651091.1:c.2255C>T	ENSP00000498677.1:n.2255C>T
ENST00000651275.1:c.2457C>T	ENSP00000498926.1:p.Pro819=
ENST00000651781.1:c.1645C>T
ENST00000651786.1:c.*1937C>T	ENSP00000498364.1:n.*1937C>T
ENST00000652096.1:c.*1970C>T	ENSP00000498896.1:n.*1970C>T
ENST00000366578.5:c.2565C>T	ENSP00000355537.4:p.Pro855=
ENST00000461367.1:n.774C>T
ENST00000542672.5:c.2565C>T	ENSP00000443495.1:p.Pro855=
ENST00000546208.5:c.1941C>T	ENSP00000438384.2:p.Pro647=
NM_001103.3:c.2565C>T	NP_001094.1:p.Pro855=
NM_001278343.1:c.2565C>T	NP_001265272.1:p.Pro855=
NM_001278344.1:c.1941C>T	NP_001265273.1:p.Pro647=
NM_001278343.2:c.2565C>T	NP_001265272.1:p.Pro855=
NM_001103.4:c.2565C>T MANE Select	NP_001094.1:p.Pro855=
NM_001278344.2:c.1941C>T	NP_001265273.1:p.Pro647=