Canonical Allele Identifier: CA430241865

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2948004
• ClinVar RCV Id: RCV003806826
• gnomAD v4: 2-178544382-T-C
• MyVariant Identifiers: chr2:g.179409109T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544382T>C , CM000664.2:g.178544382T>C	GRCh38
NC_000002.11:g.179409109T>C , CM000664.1:g.179409109T>C	GRCh37
NC_000002.10:g.179117355T>C	NCBI36
NG_011618.3:g.291421A>G , LRG_391:g.291421A>G
NG_051363.1:g.26556T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88143A>G (TTN)	ENSP00000343764.6:p.Gln29381=
ENST00000342175.11:c.69228A>G (TTN)	ENSP00000340554.6:p.Gln23076=
ENST00000359218.10:c.69027A>G (TTN)	ENSP00000352154.5:p.Gln23009=
ENST00000342175.10:c.69228A>G (TTN)	ENSP00000340554.6:p.Gln23076=
ENST00000342992.10:c.88143A>G (TTN)	ENSP00000343764.6:p.Gln29381=
ENST00000359218.9:c.69027A>G (TTN)	ENSP00000352154.5:p.Gln23009=
ENST00000460472.6:c.68652A>G (TTN)	ENSP00000434586.1:p.Gln22884=
ENST00000589042.5:c.95847A>G (TTN) MANE Select	ENSP00000467141.1:p.Gln31949=
ENST00000591111.5:c.90924A>G (TTN)	ENSP00000465570.1:p.Gln30308=
ENST00000615779.4:c.90924A>G (TTN)	ENSP00000483597.1:p.Gln30308=
NM_001256850.1:c.90924A>G (TTN)	NP_001243779.1:p.Gln30308=
NM_001267550.2:c.95847A>G (TTN) MANE Select	NP_001254479.2:p.Gln31949=
NM_003319.4:c.68652A>G (TTN)	NP_003310.4:p.Gln22884=
NM_133378.4:c.88143A>G (TTN)	NP_596869.4:p.Gln29381=
NM_133432.3:c.69027A>G (TTN)	NP_597676.3:p.Gln23009=
NM_133437.4:c.69228A>G (TTN)	NP_597681.4:p.Gln23076=
NR_038271.1:n.446+20746T>C (TTN-AS1)
NR_038272.1:n.2043+2021T>C (TTN-AS1)
XM_011511729.1:c.94944A>G (TTN)	XP_011510031.1:p.Gln31648=
XM_011511730.1:c.68838A>G (TTN)	XP_011510032.1:p.Gln22946=
XM_011511731.1:c.68697A>G (TTN)	XP_011510033.1:p.Gln22899=
XM_017004819.1:c.94740A>G (TTN)	XP_016860308.1:p.Gln31580=
XM_017004820.1:c.90138A>G (TTN)	XP_016860309.1:p.Gln30046=
XM_017004821.1:c.90135A>G (TTN)	XP_016860310.1:p.Gln30045=
XM_017004822.1:c.87177A>G (TTN)	XP_016860311.1:p.Gln29059=
XM_017004823.1:c.68793A>G (TTN)	XP_016860312.1:p.Gln22931=
XM_024453094.1:c.90288A>G (TTN)	XP_024308862.1:p.Gln30096=
XM_024453095.1:c.90285A>G (TTN)	XP_024308863.1:p.Gln30095=
XM_024453096.1:c.89718A>G (TTN)	XP_024308864.1:p.Gln29906=
XM_024453097.1:c.87060A>G (TTN)	XP_024308865.1:p.Gln29020=
XM_024453098.1:c.86979A>G (TTN)	XP_024308866.1:p.Gln28993=
XM_024453099.1:c.68742A>G (TTN)	XP_024308867.1:p.Gln22914=
XM_024453100.1:c.58596A>G (TTN)	XP_024308868.1:p.Gln19532=