Canonical Allele Identifier: CA60962048

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1037246417
• gnomAD v2: 2-179449299-G-T
• gnomAD v4: 2-178584572-G-T
• MyVariant Identifiers: chr2:g.179449299G>T (hg19) ; chr2:g.178584572G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584572G>T , CM000664.2:g.178584572G>T	GRCh38
NC_000002.11:g.179449299G>T , CM000664.1:g.179449299G>T	GRCh37
NC_000002.10:g.179157545G>T	NCBI36
NG_011618.3:g.251231C>A , LRG_391:g.251231C>A
NG_051363.1:g.66746G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57275C>A (TTN)	ENSP00000343764.6:p.Pro19092His
ENST00000342175.11:c.38360C>A (TTN)	ENSP00000340554.6:p.Pro12787His
ENST00000359218.10:c.38159C>A (TTN)	ENSP00000352154.5:p.Pro12720His
ENST00000342175.10:c.38360C>A (TTN)	ENSP00000340554.6:p.Pro12787His
ENST00000342992.10:c.57275C>A (TTN)	ENSP00000343764.6:p.Pro19092His
ENST00000359218.9:c.38159C>A (TTN)	ENSP00000352154.5:p.Pro12720His
ENST00000460472.6:c.37784C>A (TTN)	ENSP00000434586.1:p.Pro12595His
ENST00000589042.5:c.64979C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro21660His
ENST00000591111.5:c.60056C>A (TTN)	ENSP00000465570.1:p.Pro20019His
ENST00000615779.4:c.60056C>A (TTN)	ENSP00000483597.1:p.Pro20019His
NM_001256850.1:c.60056C>A (TTN)	NP_001243779.1:p.Pro20019His
NM_001267550.2:c.64979C>A (TTN) MANE Select	NP_001254479.2:p.Pro21660His
NM_003319.4:c.37784C>A (TTN)	NP_003310.4:p.Pro12595His
NM_133378.4:c.57275C>A (TTN)	NP_596869.4:p.Pro19092His
NM_133432.3:c.38159C>A (TTN)	NP_597676.3:p.Pro12720His
NM_133437.4:c.38360C>A (TTN)	NP_597681.4:p.Pro12787His
NR_038271.1:n.597-13024G>T (TTN-AS1)
NR_038272.1:n.2768-1G>T (TTN-AS1)
XM_011511729.1:c.64076C>A (TTN)	XP_011510031.1:p.Pro21359His
XM_011511730.1:c.37970C>A (TTN)	XP_011510032.1:p.Pro12657His
XM_011511731.1:c.37829C>A (TTN)	XP_011510033.1:p.Pro12610His
XM_017004819.1:c.63872C>A (TTN)	XP_016860308.1:p.Pro21291His
XM_017004820.1:c.59270C>A (TTN)	XP_016860309.1:p.Pro19757His
XM_017004821.1:c.59267C>A (TTN)	XP_016860310.1:p.Pro19756His
XM_017004822.1:c.56309C>A (TTN)	XP_016860311.1:p.Pro18770His
XM_017004823.1:c.37925C>A (TTN)	XP_016860312.1:p.Pro12642His
XM_024453094.1:c.59420C>A (TTN)	XP_024308862.1:p.Pro19807His
XM_024453095.1:c.59417C>A (TTN)	XP_024308863.1:p.Pro19806His
XM_024453096.1:c.58850C>A (TTN)	XP_024308864.1:p.Pro19617His
XM_024453097.1:c.56192C>A (TTN)	XP_024308865.1:p.Pro18731His
XM_024453098.1:c.56111C>A (TTN)	XP_024308866.1:p.Pro18704His
XM_024453099.1:c.37874C>A (TTN)	XP_024308867.1:p.Pro12625His
XM_024453100.1:c.27728C>A (TTN)	XP_024308868.1:p.Pro9243His