Canonical Allele Identifier: CA1985173

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs145560044
• ExAC: 2:179395298 G / A
• gnomAD v2: 2-179395298-G-A
• gnomAD v3: 2-178530571-G-A
• gnomAD v4: 2-178530571-G-A
• MyVariant Identifiers: chr2:g.179395298G>A (hg19) ; chr2:g.178530571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530571G>A , CM000664.2:g.178530571G>A	GRCh38
NC_000002.11:g.179395298G>A , CM000664.1:g.179395298G>A	GRCh37
NC_000002.10:g.179103544G>A	NCBI36
NG_011618.3:g.305232C>T , LRG_391:g.305232C>T
NG_051363.1:g.12745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98340C>T (TTN)	ENSP00000343764.6:p.Asn32780=
ENST00000342175.11:c.79425C>T (TTN)	ENSP00000340554.6:p.Asn26475=
ENST00000359218.10:c.79224C>T (TTN)	ENSP00000352154.5:p.Asn26408=
ENST00000342175.10:c.79425C>T (TTN)	ENSP00000340554.6:p.Asn26475=
ENST00000342992.10:c.98340C>T (TTN)	ENSP00000343764.6:p.Asn32780=
ENST00000359218.9:c.79224C>T (TTN)	ENSP00000352154.5:p.Asn26408=
ENST00000460472.6:c.78849C>T (TTN)	ENSP00000434586.1:p.Asn26283=
ENST00000589042.5:c.106044C>T (TTN) MANE Select	ENSP00000467141.1:p.Asn35348=
ENST00000591111.5:c.101121C>T (TTN)	ENSP00000465570.1:p.Asn33707=
ENST00000615779.4:c.101121C>T (TTN)	ENSP00000483597.1:p.Asn33707=
NM_001256850.1:c.101121C>T (TTN)	NP_001243779.1:p.Asn33707=
NM_001267550.2:c.106044C>T (TTN) MANE Select	NP_001254479.2:p.Asn35348=
NM_003319.4:c.78849C>T (TTN)	NP_003310.4:p.Asn26283=
NM_133378.4:c.98340C>T (TTN)	NP_596869.4:p.Asn32780=
NM_133432.3:c.79224C>T (TTN)	NP_597676.3:p.Asn26408=
NM_133437.4:c.79425C>T (TTN)	NP_597681.4:p.Asn26475=
NR_038271.1:n.446+6935G>A (TTN-AS1)
NR_038272.1:n.220-5161G>A (TTN-AS1)
XM_011511729.1:c.105141C>T (TTN)	XP_011510031.1:p.Asn35047=
XM_011511730.1:c.79035C>T (TTN)	XP_011510032.1:p.Asn26345=
XM_011511731.1:c.78894C>T (TTN)	XP_011510033.1:p.Asn26298=
XM_017004819.1:c.104937C>T (TTN)	XP_016860308.1:p.Asn34979=
XM_017004820.1:c.100335C>T (TTN)	XP_016860309.1:p.Asn33445=
XM_017004821.1:c.100332C>T (TTN)	XP_016860310.1:p.Asn33444=
XM_017004822.1:c.97374C>T (TTN)	XP_016860311.1:p.Asn32458=
XM_017004823.1:c.78990C>T (TTN)	XP_016860312.1:p.Asn26330=
XM_024453094.1:c.100485C>T (TTN)	XP_024308862.1:p.Asn33495=
XM_024453095.1:c.100482C>T (TTN)	XP_024308863.1:p.Asn33494=
XM_024453096.1:c.99915C>T (TTN)	XP_024308864.1:p.Asn33305=
XM_024453097.1:c.97257C>T (TTN)	XP_024308865.1:p.Asn32419=
XM_024453098.1:c.97176C>T (TTN)	XP_024308866.1:p.Asn32392=
XM_024453099.1:c.78939C>T (TTN)	XP_024308867.1:p.Asn26313=
XM_024453100.1:c.68793C>T (TTN)	XP_024308868.1:p.Asn22931=