Canonical Allele Identifier: CA345373594

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236882262T>A (hg19) ; chr1:g.236718962T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718962T>A , CM000663.2:g.236718962T>A	GRCh38
NC_000001.10:g.236882262T>A , CM000663.1:g.236882262T>A	GRCh37
NC_000001.9:g.234948885T>A	NCBI36
NG_009081.1:g.37493T>A
NG_009081.2:g.59822T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.310T>A	ENSP00000443495.1:p.Leu104Met
ENST00000492634.7:n.405T>A
ENST00000494762.2:n.59T>A
ENST00000682015.1:c.310T>A	ENSP00000506961.1:p.Leu104Met
ENST00000682692.1:n.310T>A
ENST00000682966.1:n.309T>A
ENST00000683075.1:n.249T>A
ENST00000683111.1:c.253T>A	ENSP00000507913.1:p.Leu85Met
ENST00000684050.1:n.345T>A
ENST00000684286.1:n.378T>A
ENST00000684502.1:n.345T>A
ENST00000366578.6:c.310T>A MANE Select	ENSP00000355537.4:p.Leu104Met
ENST00000492634.6:n.405T>A
ENST00000542672.6:c.310T>A	ENSP00000443495.1:p.Leu104Met
ENST00000651091.1:c.253T>A	ENSP00000498677.1:p.Leu85Met
ENST00000651187.1:c.94T>A	ENSP00000498348.1:p.Leu32Met
ENST00000651275.1:c.295T>A	ENSP00000498926.1:p.Leu99Met
ENST00000651786.1:c.310T>A	ENSP00000498364.1:p.Leu104Met
ENST00000652096.1:c.310T>A	ENSP00000498896.1:p.Leu104Met
ENST00000366578.5:c.310T>A	ENSP00000355537.4:p.Leu104Met
ENST00000492634.5:n.457T>A
ENST00000542672.5:c.310T>A	ENSP00000443495.1:p.Leu104Met
ENST00000546208.5:c.-512T>A	ENSP00000438384.2:n.-512T>A
NM_001103.3:c.310T>A	NP_001094.1:p.Leu104Met
NM_001278343.1:c.310T>A	NP_001265272.1:p.Leu104Met
NM_001278344.1:c.-512T>A	NP_001265273.1:n.-512T>A
NM_001278343.2:c.310T>A	NP_001265272.1:p.Leu104Met
NM_001103.4:c.310T>A MANE Select	NP_001094.1:p.Leu104Met
NM_001278344.2:c.-512T>A	NP_001265273.1:n.-512T>A