Canonical Allele Identifier: CA345392591

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925876A>T (hg19) ; chr1:g.236762576A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762576A>T , CM000663.2:g.236762576A>T	GRCh38
NC_000001.10:g.236925876A>T , CM000663.1:g.236925876A>T	GRCh37
NC_000001.9:g.234992499A>T	NCBI36
NG_009081.1:g.81107A>T
NG_009081.2:g.103436A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2642A>T	ENSP00000443495.1:p.Tyr881Phe
ENST00000461367.2:n.938A>T
ENST00000492634.7:n.2572A>T
ENST00000682015.1:c.2549A>T	ENSP00000506961.1:p.Tyr850Phe
ENST00000682490.1:n.560A>T
ENST00000682692.1:n.3737A>T
ENST00000682966.1:n.8283A>T
ENST00000683111.1:c.*1928A>T	ENSP00000507913.1:n.*1928A>T
ENST00000683322.1:n.3994A>T
ENST00000683805.1:n.1433A>T
ENST00000684050.1:n.5280A>T
ENST00000684122.1:n.2076A>T
ENST00000684286.1:n.4197A>T
ENST00000684502.1:n.3939A>T
ENST00000684763.1:n.1257A>T
ENST00000366578.6:c.2642A>T MANE Select	ENSP00000355537.4:p.Tyr881Phe
ENST00000492634.6:n.2572A>T
ENST00000542672.6:c.2642A>T	ENSP00000443495.1:p.Tyr881Phe
ENST00000651091.1:c.2332A>T	ENSP00000498677.1:n.2332A>T
ENST00000651275.1:c.2534A>T	ENSP00000498926.1:p.Tyr845Phe
ENST00000651781.1:c.1722A>T
ENST00000651786.1:c.*2014A>T	ENSP00000498364.1:n.*2014A>T
ENST00000652096.1:c.*2047A>T	ENSP00000498896.1:n.*2047A>T
ENST00000366578.5:c.2642A>T	ENSP00000355537.4:p.Tyr881Phe
ENST00000542672.5:c.2642A>T	ENSP00000443495.1:p.Tyr881Phe
ENST00000546208.5:c.2018A>T	ENSP00000438384.2:p.Tyr673Phe
NM_001103.3:c.2642A>T	NP_001094.1:p.Tyr881Phe
NM_001278343.1:c.2642A>T	NP_001265272.1:p.Tyr881Phe
NM_001278344.1:c.2018A>T	NP_001265273.1:p.Tyr673Phe
NM_001278343.2:c.2642A>T	NP_001265272.1:p.Tyr881Phe
NM_001103.4:c.2642A>T MANE Select	NP_001094.1:p.Tyr881Phe
NM_001278344.2:c.2018A>T	NP_001265273.1:p.Tyr673Phe