Canonical Allele Identifier: CA2651180510

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236747551-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747551A>T , CM000663.2:g.236747551A>T	GRCh38
NC_000001.10:g.236910851A>T , CM000663.1:g.236910851A>T	GRCh37
NC_000001.9:g.234977474A>T	NCBI36
NG_009081.1:g.66082A>T
NG_009081.2:g.88411A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1407-116A>T	ENSP00000443495.1:n.1407-116A>T
ENST00000492634.7:n.1337-116A>T
ENST00000682015.1:c.1314-116A>T	ENSP00000506961.1:n.1314-116A>T
ENST00000682692.1:n.1154-116A>T
ENST00000682966.1:n.7048-116A>T
ENST00000683111.1:c.*693-116A>T	ENSP00000507913.1:n.*693-116A>T
ENST00000683322.1:n.2759-116A>T
ENST00000684050.1:n.4045-116A>T
ENST00000684286.1:n.2962-116A>T
ENST00000684502.1:n.1356-116A>T
ENST00000366578.6:c.1407-116A>T MANE Select	ENSP00000355537.4:n.1407-116A>T
ENST00000492634.6:n.1337-116A>T
ENST00000542672.6:c.1407-116A>T	ENSP00000443495.1:n.1407-116A>T
ENST00000651091.1:c.1097-116A>T	ENSP00000498677.1:n.1097-116A>T
ENST00000651275.1:c.1299-116A>T	ENSP00000498926.1:n.1299-116A>T
ENST00000651781.1:c.487-116A>T
ENST00000651786.1:c.*779-116A>T	ENSP00000498364.1:n.*779-116A>T
ENST00000652096.1:c.*812-116A>T	ENSP00000498896.1:n.*812-116A>T
ENST00000366578.5:c.1407-116A>T	ENSP00000355537.4:n.1407-116A>T
ENST00000542672.5:c.1407-116A>T	ENSP00000443495.1:n.1407-116A>T
ENST00000546208.5:c.783-116A>T	ENSP00000438384.2:n.783-116A>T
NM_001103.3:c.1407-116A>T	NP_001094.1:n.1407-116A>T
NM_001278343.1:c.1407-116A>T	NP_001265272.1:n.1407-116A>T
NM_001278344.1:c.783-116A>T	NP_001265273.1:n.783-116A>T
NM_001278343.2:c.1407-116A>T	NP_001265272.1:n.1407-116A>T
NM_001103.4:c.1407-116A>T MANE Select	NP_001094.1:n.1407-116A>T
NM_001278344.2:c.783-116A>T	NP_001265273.1:n.783-116A>T