Canonical Allele Identifier: CA345373448

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 965607
• ClinVar RCV Id: RCV001240100 ; RCV003166497
• dbSNP Id: rs1658299884
• gnomAD v4: 1-236718894-G-A
• MyVariant Identifiers: chr1:g.236882194G>A (hg19) ; chr1:g.236718894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718894G>A , CM000663.2:g.236718894G>A	GRCh38
NC_000001.10:g.236882194G>A , CM000663.1:g.236882194G>A	GRCh37
NC_000001.9:g.234948817G>A	NCBI36
NG_009081.1:g.37425G>A
NG_009081.2:g.59754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.242G>A	ENSP00000443495.1:p.Gly81Glu
ENST00000492634.7:n.337G>A
ENST00000682015.1:c.242G>A	ENSP00000506961.1:p.Gly81Glu
ENST00000682692.1:n.242G>A
ENST00000682966.1:n.241G>A
ENST00000683075.1:n.181G>A
ENST00000683111.1:c.185G>A	ENSP00000507913.1:p.Gly62Glu
ENST00000684050.1:n.277G>A
ENST00000684286.1:n.310G>A
ENST00000684502.1:n.277G>A
ENST00000366578.6:c.242G>A MANE Select	ENSP00000355537.4:p.Gly81Glu
ENST00000492634.6:n.337G>A
ENST00000542672.6:c.242G>A	ENSP00000443495.1:p.Gly81Glu
ENST00000651091.1:c.185G>A	ENSP00000498677.1:p.Gly62Glu
ENST00000651187.1:c.26G>A	ENSP00000498348.1:p.Gly9Glu
ENST00000651275.1:c.227G>A	ENSP00000498926.1:p.Gly76Glu
ENST00000651786.1:c.242G>A	ENSP00000498364.1:p.Gly81Glu
ENST00000652096.1:c.242G>A	ENSP00000498896.1:p.Gly81Glu
ENST00000366578.5:c.242G>A	ENSP00000355537.4:p.Gly81Glu
ENST00000492634.5:n.389G>A
ENST00000542672.5:c.242G>A	ENSP00000443495.1:p.Gly81Glu
ENST00000546208.5:c.-580G>A	ENSP00000438384.2:n.-580G>A
NM_001103.3:c.242G>A	NP_001094.1:p.Gly81Glu
NM_001278343.1:c.242G>A	NP_001265272.1:p.Gly81Glu
NM_001278344.1:c.-580G>A	NP_001265273.1:n.-580G>A
NM_001278343.2:c.242G>A	NP_001265272.1:p.Gly81Glu
NM_001103.4:c.242G>A MANE Select	NP_001094.1:p.Gly81Glu
NM_001278344.2:c.-580G>A	NP_001265273.1:n.-580G>A