Canonical Allele Identifier: CA39710012

Gene: ACTN2

Linked Data

• dbSNP Id: rs987221795
• gnomAD v2: 1-236882522-T-C
• gnomAD v3: 1-236719222-T-C
• gnomAD v4: 1-236719222-T-C
• MyVariant Identifiers: chr1:g.236882522T>C (hg19) ; chr1:g.236719222T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236719222T>C , CM000663.2:g.236719222T>C	GRCh38
NC_000001.10:g.236882522T>C , CM000663.1:g.236882522T>C	GRCh37
NC_000001.9:g.234949145T>C	NCBI36
NG_009081.1:g.37753T>C
NG_009081.2:g.60082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.361+209T>C	ENSP00000443495.1:n.361+209T>C
ENST00000492634.7:n.456+209T>C
ENST00000494762.2:n.110+209T>C
ENST00000682015.1:c.361+209T>C	ENSP00000506961.1:n.361+209T>C
ENST00000682692.1:n.361+209T>C
ENST00000682966.1:n.360+209T>C
ENST00000683075.1:n.300+209T>C
ENST00000683111.1:c.304+209T>C	ENSP00000507913.1:n.304+209T>C
ENST00000684050.1:n.396+209T>C
ENST00000684286.1:n.429+209T>C
ENST00000684502.1:n.396+209T>C
ENST00000366578.6:c.361+209T>C MANE Select	ENSP00000355537.4:n.361+209T>C
ENST00000492634.6:n.456+209T>C
ENST00000542672.6:c.361+209T>C	ENSP00000443495.1:n.361+209T>C
ENST00000651091.1:c.304+209T>C	ENSP00000498677.1:n.304+209T>C
ENST00000651187.1:c.145+209T>C	ENSP00000498348.1:n.145+209T>C
ENST00000651275.1:c.346+209T>C	ENSP00000498926.1:n.346+209T>C
ENST00000651786.1:c.361+209T>C	ENSP00000498364.1:n.361+209T>C
ENST00000652096.1:c.361+209T>C	ENSP00000498896.1:n.361+209T>C
ENST00000366578.5:c.361+209T>C	ENSP00000355537.4:n.361+209T>C
ENST00000492634.5:n.508+209T>C
ENST00000542672.5:c.361+209T>C	ENSP00000443495.1:n.361+209T>C
ENST00000546208.5:c.-461+209T>C	ENSP00000438384.2:n.-461+209T>C
NM_001103.3:c.361+209T>C	NP_001094.1:n.361+209T>C
NM_001278343.1:c.361+209T>C	NP_001265272.1:n.361+209T>C
NM_001278344.1:c.-461+209T>C	NP_001265273.1:n.-461+209T>C
NM_001278343.2:c.361+209T>C	NP_001265272.1:n.361+209T>C
NM_001103.4:c.361+209T>C MANE Select	NP_001094.1:n.361+209T>C
NM_001278344.2:c.-461+209T>C	NP_001265273.1:n.-461+209T>C