Canonical Allele Identifier: CA39748477

Gene: ACTN2

Linked Data

• dbSNP Id: rs897814687
• gnomAD v4: 1-236762712-T-C
• MyVariant Identifiers: chr1:g.236926012T>C (hg19) ; chr1:g.236762712T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762712T>C , CM000663.2:g.236762712T>C	GRCh38
NC_000001.10:g.236926012T>C , CM000663.1:g.236926012T>C	GRCh37
NC_000001.9:g.234992635T>C	NCBI36
NG_009081.1:g.81243T>C
NG_009081.2:g.103572T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*93T>C	ENSP00000443495.1:n.*93T>C
ENST00000461367.2:n.1074T>C
ENST00000492634.7:n.2708T>C
ENST00000682015.1:c.*93T>C	ENSP00000506961.1:n.*93T>C
ENST00000682490.1:n.696T>C
ENST00000682692.1:n.3873T>C
ENST00000682966.1:n.8419T>C
ENST00000683111.1:c.*2064T>C	ENSP00000507913.1:n.*2064T>C
ENST00000683322.1:n.4130T>C
ENST00000683805.1:n.1569T>C
ENST00000684050.1:n.5416T>C
ENST00000684122.1:n.2212T>C
ENST00000684286.1:n.4333T>C
ENST00000684502.1:n.4075T>C
ENST00000684763.1:n.1393T>C
ENST00000366578.6:c.*93T>C MANE Select	ENSP00000355537.4:n.*93T>C
ENST00000492634.6:n.2708T>C
ENST00000542672.6:c.*93T>C	ENSP00000443495.1:n.*93T>C
ENST00000651275.1:c.2670T>C	ENSP00000498926.1:n.2670T>C
ENST00000651781.1:c.1858T>C
ENST00000651786.1:c.*2150T>C	ENSP00000498364.1:n.*2150T>C
ENST00000652096.1:c.*2183T>C	ENSP00000498896.1:n.*2183T>C
ENST00000366578.5:c.*93T>C	ENSP00000355537.4:n.*93T>C
ENST00000542672.5:c.*93T>C	ENSP00000443495.1:n.*93T>C
ENST00000546208.5:c.*93T>C	ENSP00000438384.2:n.*93T>C
NM_001103.3:c.*93T>C	NP_001094.1:n.*93T>C
NM_001278343.1:c.*93T>C	NP_001265272.1:n.*93T>C
NM_001278344.1:c.*93T>C	NP_001265273.1:n.*93T>C
NM_001278343.2:c.*93T>C	NP_001265272.1:n.*93T>C
NM_001103.4:c.*93T>C MANE Select	NP_001094.1:n.*93T>C
NM_001278344.2:c.*93T>C	NP_001265273.1:n.*93T>C