Canonical Allele Identifier: CA345392609

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925881G>T (hg19) ; chr1:g.236762581G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762581G>T , CM000663.2:g.236762581G>T	GRCh38
NC_000001.10:g.236925881G>T , CM000663.1:g.236925881G>T	GRCh37
NC_000001.9:g.234992504G>T	NCBI36
NG_009081.1:g.81112G>T
NG_009081.2:g.103441G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2647G>T	ENSP00000443495.1:p.Ala883Ser
ENST00000461367.2:n.943G>T
ENST00000492634.7:n.2577G>T
ENST00000682015.1:c.2554G>T	ENSP00000506961.1:p.Ala852Ser
ENST00000682490.1:n.565G>T
ENST00000682692.1:n.3742G>T
ENST00000682966.1:n.8288G>T
ENST00000683111.1:c.*1933G>T	ENSP00000507913.1:n.*1933G>T
ENST00000683322.1:n.3999G>T
ENST00000683805.1:n.1438G>T
ENST00000684050.1:n.5285G>T
ENST00000684122.1:n.2081G>T
ENST00000684286.1:n.4202G>T
ENST00000684502.1:n.3944G>T
ENST00000684763.1:n.1262G>T
ENST00000366578.6:c.2647G>T MANE Select	ENSP00000355537.4:p.Ala883Ser
ENST00000492634.6:n.2577G>T
ENST00000542672.6:c.2647G>T	ENSP00000443495.1:p.Ala883Ser
ENST00000651091.1:c.2337G>T	ENSP00000498677.1:n.2337G>T
ENST00000651275.1:c.2539G>T	ENSP00000498926.1:p.Ala847Ser
ENST00000651781.1:c.1727G>T
ENST00000651786.1:c.*2019G>T	ENSP00000498364.1:n.*2019G>T
ENST00000652096.1:c.*2052G>T	ENSP00000498896.1:n.*2052G>T
ENST00000366578.5:c.2647G>T	ENSP00000355537.4:p.Ala883Ser
ENST00000542672.5:c.2647G>T	ENSP00000443495.1:p.Ala883Ser
ENST00000546208.5:c.2023G>T	ENSP00000438384.2:p.Ala675Ser
NM_001103.3:c.2647G>T	NP_001094.1:p.Ala883Ser
NM_001278343.1:c.2647G>T	NP_001265272.1:p.Ala883Ser
NM_001278344.1:c.2023G>T	NP_001265273.1:p.Ala675Ser
NM_001278343.2:c.2647G>T	NP_001265272.1:p.Ala883Ser
NM_001103.4:c.2647G>T MANE Select	NP_001094.1:p.Ala883Ser
NM_001278344.2:c.2023G>T	NP_001265273.1:p.Ala675Ser