Canonical Allele Identifier: CA60970507

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs745962752
• gnomAD v4: 2-178544221-A-T
• MyVariant Identifiers: chr2:g.179408948A>T (hg19) ; chr2:g.178544221A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544221A>T , CM000664.2:g.178544221A>T	GRCh38
NC_000002.11:g.179408948A>T , CM000664.1:g.179408948A>T	GRCh37
NC_000002.10:g.179117194A>T	NCBI36
NG_011618.3:g.291582T>A , LRG_391:g.291582T>A
NG_051363.1:g.26395A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88304T>A (TTN)	ENSP00000343764.6:p.Ile29435Asn
ENST00000342175.11:c.69389T>A (TTN)	ENSP00000340554.6:p.Ile23130Asn
ENST00000359218.10:c.69188T>A (TTN)	ENSP00000352154.5:p.Ile23063Asn
ENST00000342175.10:c.69389T>A (TTN)	ENSP00000340554.6:p.Ile23130Asn
ENST00000342992.10:c.88304T>A (TTN)	ENSP00000343764.6:p.Ile29435Asn
ENST00000359218.9:c.69188T>A (TTN)	ENSP00000352154.5:p.Ile23063Asn
ENST00000460472.6:c.68813T>A (TTN)	ENSP00000434586.1:p.Ile22938Asn
ENST00000589042.5:c.96008T>A (TTN) MANE Select	ENSP00000467141.1:p.Ile32003Asn
ENST00000591111.5:c.91085T>A (TTN)	ENSP00000465570.1:p.Ile30362Asn
ENST00000615779.4:c.91085T>A (TTN)	ENSP00000483597.1:p.Ile30362Asn
NM_001256850.1:c.91085T>A (TTN)	NP_001243779.1:p.Ile30362Asn
NM_001267550.2:c.96008T>A (TTN) MANE Select	NP_001254479.2:p.Ile32003Asn
NM_003319.4:c.68813T>A (TTN)	NP_003310.4:p.Ile22938Asn
NM_133378.4:c.88304T>A (TTN)	NP_596869.4:p.Ile29435Asn
NM_133432.3:c.69188T>A (TTN)	NP_597676.3:p.Ile23063Asn
NM_133437.4:c.69389T>A (TTN)	NP_597681.4:p.Ile23130Asn
NR_038271.1:n.446+20585A>T (TTN-AS1)
NR_038272.1:n.2043+1860A>T (TTN-AS1)
XM_011511729.1:c.95105T>A (TTN)	XP_011510031.1:p.Ile31702Asn
XM_011511730.1:c.68999T>A (TTN)	XP_011510032.1:p.Ile23000Asn
XM_011511731.1:c.68858T>A (TTN)	XP_011510033.1:p.Ile22953Asn
XM_017004819.1:c.94901T>A (TTN)	XP_016860308.1:p.Ile31634Asn
XM_017004820.1:c.90299T>A (TTN)	XP_016860309.1:p.Ile30100Asn
XM_017004821.1:c.90296T>A (TTN)	XP_016860310.1:p.Ile30099Asn
XM_017004822.1:c.87338T>A (TTN)	XP_016860311.1:p.Ile29113Asn
XM_017004823.1:c.68954T>A (TTN)	XP_016860312.1:p.Ile22985Asn
XM_024453094.1:c.90449T>A (TTN)	XP_024308862.1:p.Ile30150Asn
XM_024453095.1:c.90446T>A (TTN)	XP_024308863.1:p.Ile30149Asn
XM_024453096.1:c.89879T>A (TTN)	XP_024308864.1:p.Ile29960Asn
XM_024453097.1:c.87221T>A (TTN)	XP_024308865.1:p.Ile29074Asn
XM_024453098.1:c.87140T>A (TTN)	XP_024308866.1:p.Ile29047Asn
XM_024453099.1:c.68903T>A (TTN)	XP_024308867.1:p.Ile22968Asn
XM_024453100.1:c.58757T>A (TTN)	XP_024308868.1:p.Ile19586Asn