Canonical Allele Identifier: CA430248118

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178559747-G-A
• MyVariant Identifiers: chr2:g.179424474G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559747G>A , CM000664.2:g.178559747G>A	GRCh38
NC_000002.11:g.179424474G>A , CM000664.1:g.179424474G>A	GRCh37
NC_000002.10:g.179132720G>A	NCBI36
NG_011618.3:g.276056C>T , LRG_391:g.276056C>T
NG_051363.1:g.41921G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.78681C>T (TTN)	ENSP00000343764.6:p.Leu26227=
ENST00000342175.11:c.59766C>T (TTN)	ENSP00000340554.6:p.Leu19922=
ENST00000359218.10:c.59565C>T (TTN)	ENSP00000352154.5:p.Leu19855=
ENST00000342175.10:c.59766C>T (TTN)	ENSP00000340554.6:p.Leu19922=
ENST00000342992.10:c.78681C>T (TTN)	ENSP00000343764.6:p.Leu26227=
ENST00000359218.9:c.59565C>T (TTN)	ENSP00000352154.5:p.Leu19855=
ENST00000460472.6:c.59190C>T (TTN)	ENSP00000434586.1:p.Leu19730=
ENST00000589042.5:c.86385C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu28795=
ENST00000591111.5:c.81462C>T (TTN)	ENSP00000465570.1:p.Leu27154=
ENST00000615779.4:c.81462C>T (TTN)	ENSP00000483597.1:p.Leu27154=
NM_001256850.1:c.81462C>T (TTN)	NP_001243779.1:p.Leu27154=
NM_001267550.2:c.86385C>T (TTN) MANE Select	NP_001254479.2:p.Leu28795=
NM_003319.4:c.59190C>T (TTN)	NP_003310.4:p.Leu19730=
NM_133378.4:c.78681C>T (TTN)	NP_596869.4:p.Leu26227=
NM_133432.3:c.59565C>T (TTN)	NP_597676.3:p.Leu19855=
NM_133437.4:c.59766C>T (TTN)	NP_597681.4:p.Leu19922=
NR_038271.1:n.447-11553G>A (TTN-AS1)
NR_038272.1:n.2043+17386G>A (TTN-AS1)
XM_011511729.1:c.85482C>T (TTN)	XP_011510031.1:p.Leu28494=
XM_011511730.1:c.59376C>T (TTN)	XP_011510032.1:p.Leu19792=
XM_011511731.1:c.59235C>T (TTN)	XP_011510033.1:p.Leu19745=
XM_017004819.1:c.85278C>T (TTN)	XP_016860308.1:p.Leu28426=
XM_017004820.1:c.80676C>T (TTN)	XP_016860309.1:p.Leu26892=
XM_017004821.1:c.80673C>T (TTN)	XP_016860310.1:p.Leu26891=
XM_017004822.1:c.77715C>T (TTN)	XP_016860311.1:p.Leu25905=
XM_017004823.1:c.59331C>T (TTN)	XP_016860312.1:p.Leu19777=
XM_024453094.1:c.80826C>T (TTN)	XP_024308862.1:p.Leu26942=
XM_024453095.1:c.80823C>T (TTN)	XP_024308863.1:p.Leu26941=
XM_024453096.1:c.80256C>T (TTN)	XP_024308864.1:p.Leu26752=
XM_024453097.1:c.77598C>T (TTN)	XP_024308865.1:p.Leu25866=
XM_024453098.1:c.77517C>T (TTN)	XP_024308866.1:p.Leu25839=
XM_024453099.1:c.59280C>T (TTN)	XP_024308867.1:p.Leu19760=
XM_024453100.1:c.49134C>T (TTN)	XP_024308868.1:p.Leu16378=