Canonical Allele Identifier: CA349436083

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449406C>G (hg19) ; chr2:g.178584679C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584679C>G , CM000664.2:g.178584679C>G	GRCh38
NC_000002.11:g.179449406C>G , CM000664.1:g.179449406C>G	GRCh37
NC_000002.10:g.179157652C>G	NCBI36
NG_011618.3:g.251124G>C , LRG_391:g.251124G>C
NG_051363.1:g.66853C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57258G>C (TTN)	ENSP00000343764.6:p.Gln19086His
ENST00000342175.11:c.38343G>C (TTN)	ENSP00000340554.6:p.Gln12781His
ENST00000359218.10:c.38142G>C (TTN)	ENSP00000352154.5:p.Gln12714His
ENST00000342175.10:c.38343G>C (TTN)	ENSP00000340554.6:p.Gln12781His
ENST00000342992.10:c.57258G>C (TTN)	ENSP00000343764.6:p.Gln19086His
ENST00000359218.9:c.38142G>C (TTN)	ENSP00000352154.5:p.Gln12714His
ENST00000460472.6:c.37767G>C (TTN)	ENSP00000434586.1:p.Gln12589His
ENST00000589042.5:c.64962G>C (TTN) MANE Select	ENSP00000467141.1:p.Gln21654His
ENST00000591111.5:c.60039G>C (TTN)	ENSP00000465570.1:p.Gln20013His
ENST00000615779.4:c.60039G>C (TTN)	ENSP00000483597.1:p.Gln20013His
NM_001256850.1:c.60039G>C (TTN)	NP_001243779.1:p.Gln20013His
NM_001267550.2:c.64962G>C (TTN) MANE Select	NP_001254479.2:p.Gln21654His
NM_003319.4:c.37767G>C (TTN)	NP_003310.4:p.Gln12589His
NM_133378.4:c.57258G>C (TTN)	NP_596869.4:p.Gln19086His
NM_133432.3:c.38142G>C (TTN)	NP_597676.3:p.Gln12714His
NM_133437.4:c.38343G>C (TTN)	NP_597681.4:p.Gln12781His
NR_038271.1:n.597-12917C>G (TTN-AS1)
NR_038272.1:n.2874C>G (TTN-AS1)
XM_011511729.1:c.64059G>C (TTN)	XP_011510031.1:p.Gln21353His
XM_011511730.1:c.37953G>C (TTN)	XP_011510032.1:p.Gln12651His
XM_011511731.1:c.37812G>C (TTN)	XP_011510033.1:p.Gln12604His
XM_017004819.1:c.63855G>C (TTN)	XP_016860308.1:p.Gln21285His
XM_017004820.1:c.59253G>C (TTN)	XP_016860309.1:p.Gln19751His
XM_017004821.1:c.59250G>C (TTN)	XP_016860310.1:p.Gln19750His
XM_017004822.1:c.56292G>C (TTN)	XP_016860311.1:p.Gln18764His
XM_017004823.1:c.37908G>C (TTN)	XP_016860312.1:p.Gln12636His
XM_024453094.1:c.59403G>C (TTN)	XP_024308862.1:p.Gln19801His
XM_024453095.1:c.59400G>C (TTN)	XP_024308863.1:p.Gln19800His
XM_024453096.1:c.58833G>C (TTN)	XP_024308864.1:p.Gln19611His
XM_024453097.1:c.56175G>C (TTN)	XP_024308865.1:p.Gln18725His
XM_024453098.1:c.56094G>C (TTN)	XP_024308866.1:p.Gln18698His
XM_024453099.1:c.37857G>C (TTN)	XP_024308867.1:p.Gln12619His
XM_024453100.1:c.27711G>C (TTN)	XP_024308868.1:p.Gln9237His