Canonical Allele Identifier: CA1985182

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2088033
• ClinVar RCV Id: RCV003009864
• dbSNP Id: rs753993485
• ExAC: 2:179395351 G / T
• gnomAD v2: 2-179395351-G-T
• gnomAD v4: 2-178530624-G-T
• MyVariant Identifiers: chr2:g.179395351G>T (hg19) ; chr2:g.178530624G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530624G>T , CM000664.2:g.178530624G>T	GRCh38
NC_000002.11:g.179395351G>T , CM000664.1:g.179395351G>T	GRCh37
NC_000002.10:g.179103597G>T	NCBI36
NG_011618.3:g.305179C>A , LRG_391:g.305179C>A
NG_051363.1:g.12798G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98287C>A (TTN)	ENSP00000343764.6:p.His32763Asn
ENST00000342175.11:c.79372C>A (TTN)	ENSP00000340554.6:p.His26458Asn
ENST00000359218.10:c.79171C>A (TTN)	ENSP00000352154.5:p.His26391Asn
ENST00000342175.10:c.79372C>A (TTN)	ENSP00000340554.6:p.His26458Asn
ENST00000342992.10:c.98287C>A (TTN)	ENSP00000343764.6:p.His32763Asn
ENST00000359218.9:c.79171C>A (TTN)	ENSP00000352154.5:p.His26391Asn
ENST00000460472.6:c.78796C>A (TTN)	ENSP00000434586.1:p.His26266Asn
ENST00000589042.5:c.105991C>A (TTN) MANE Select	ENSP00000467141.1:p.His35331Asn
ENST00000591111.5:c.101068C>A (TTN)	ENSP00000465570.1:p.His33690Asn
ENST00000615779.4:c.101068C>A (TTN)	ENSP00000483597.1:p.His33690Asn
NM_001256850.1:c.101068C>A (TTN)	NP_001243779.1:p.His33690Asn
NM_001267550.2:c.105991C>A (TTN) MANE Select	NP_001254479.2:p.His35331Asn
NM_003319.4:c.78796C>A (TTN)	NP_003310.4:p.His26266Asn
NM_133378.4:c.98287C>A (TTN)	NP_596869.4:p.His32763Asn
NM_133432.3:c.79171C>A (TTN)	NP_597676.3:p.His26391Asn
NM_133437.4:c.79372C>A (TTN)	NP_597681.4:p.His26458Asn
NR_038271.1:n.446+6988G>T (TTN-AS1)
NR_038272.1:n.220-5108G>T (TTN-AS1)
XM_011511729.1:c.105088C>A (TTN)	XP_011510031.1:p.His35030Asn
XM_011511730.1:c.78982C>A (TTN)	XP_011510032.1:p.His26328Asn
XM_011511731.1:c.78841C>A (TTN)	XP_011510033.1:p.His26281Asn
XM_017004819.1:c.104884C>A (TTN)	XP_016860308.1:p.His34962Asn
XM_017004820.1:c.100282C>A (TTN)	XP_016860309.1:p.His33428Asn
XM_017004821.1:c.100279C>A (TTN)	XP_016860310.1:p.His33427Asn
XM_017004822.1:c.97321C>A (TTN)	XP_016860311.1:p.His32441Asn
XM_017004823.1:c.78937C>A (TTN)	XP_016860312.1:p.His26313Asn
XM_024453094.1:c.100432C>A (TTN)	XP_024308862.1:p.His33478Asn
XM_024453095.1:c.100429C>A (TTN)	XP_024308863.1:p.His33477Asn
XM_024453096.1:c.99862C>A (TTN)	XP_024308864.1:p.His33288Asn
XM_024453097.1:c.97204C>A (TTN)	XP_024308865.1:p.His32402Asn
XM_024453098.1:c.97123C>A (TTN)	XP_024308866.1:p.His32375Asn
XM_024453099.1:c.78886C>A (TTN)	XP_024308867.1:p.His26296Asn
XM_024453100.1:c.68740C>A (TTN)	XP_024308868.1:p.His22914Asn