Canonical Allele Identifier: CA349519006

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179418363A>C (hg19) ; chr2:g.178553636A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178553636A>C , CM000664.2:g.178553636A>C	GRCh38
NC_000002.11:g.179418363A>C , CM000664.1:g.179418363A>C	GRCh37
NC_000002.10:g.179126609A>C	NCBI36
NG_011618.3:g.282167T>G , LRG_391:g.282167T>G
NG_051363.1:g.35810A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.81665T>G (TTN)	ENSP00000343764.6:p.Val27222Gly
ENST00000342175.11:c.62750T>G (TTN)	ENSP00000340554.6:p.Val20917Gly
ENST00000359218.10:c.62549T>G (TTN)	ENSP00000352154.5:p.Val20850Gly
ENST00000342175.10:c.62750T>G (TTN)	ENSP00000340554.6:p.Val20917Gly
ENST00000342992.10:c.81665T>G (TTN)	ENSP00000343764.6:p.Val27222Gly
ENST00000359218.9:c.62549T>G (TTN)	ENSP00000352154.5:p.Val20850Gly
ENST00000460472.6:c.62174T>G (TTN)	ENSP00000434586.1:p.Val20725Gly
ENST00000589042.5:c.89369T>G (TTN) MANE Select	ENSP00000467141.1:p.Val29790Gly
ENST00000591111.5:c.84446T>G (TTN)	ENSP00000465570.1:p.Val28149Gly
ENST00000615779.4:c.84446T>G (TTN)	ENSP00000483597.1:p.Val28149Gly
NM_001256850.1:c.84446T>G (TTN)	NP_001243779.1:p.Val28149Gly
NM_001267550.2:c.89369T>G (TTN) MANE Select	NP_001254479.2:p.Val29790Gly
NM_003319.4:c.62174T>G (TTN)	NP_003310.4:p.Val20725Gly
NM_133378.4:c.81665T>G (TTN)	NP_596869.4:p.Val27222Gly
NM_133432.3:c.62549T>G (TTN)	NP_597676.3:p.Val20850Gly
NM_133437.4:c.62750T>G (TTN)	NP_597681.4:p.Val20917Gly
NR_038271.1:n.447-17664A>C (TTN-AS1)
NR_038272.1:n.2043+11275A>C (TTN-AS1)
XM_011511729.1:c.88466T>G (TTN)	XP_011510031.1:p.Val29489Gly
XM_011511730.1:c.62360T>G (TTN)	XP_011510032.1:p.Val20787Gly
XM_011511731.1:c.62219T>G (TTN)	XP_011510033.1:p.Val20740Gly
XM_017004819.1:c.88262T>G (TTN)	XP_016860308.1:p.Val29421Gly
XM_017004820.1:c.83660T>G (TTN)	XP_016860309.1:p.Val27887Gly
XM_017004821.1:c.83657T>G (TTN)	XP_016860310.1:p.Val27886Gly
XM_017004822.1:c.80699T>G (TTN)	XP_016860311.1:p.Val26900Gly
XM_017004823.1:c.62315T>G (TTN)	XP_016860312.1:p.Val20772Gly
XM_024453094.1:c.83810T>G (TTN)	XP_024308862.1:p.Val27937Gly
XM_024453095.1:c.83807T>G (TTN)	XP_024308863.1:p.Val27936Gly
XM_024453096.1:c.83240T>G (TTN)	XP_024308864.1:p.Val27747Gly
XM_024453097.1:c.80582T>G (TTN)	XP_024308865.1:p.Val26861Gly
XM_024453098.1:c.80501T>G (TTN)	XP_024308866.1:p.Val26834Gly
XM_024453099.1:c.62264T>G (TTN)	XP_024308867.1:p.Val20755Gly
XM_024453100.1:c.52118T>G (TTN)	XP_024308868.1:p.Val17373Gly