Canonical Allele Identifier: CA349456534

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409081C>T (hg19) ; chr2:g.178544354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544354C>T , CM000664.2:g.178544354C>T	GRCh38
NC_000002.11:g.179409081C>T , CM000664.1:g.179409081C>T	GRCh37
NC_000002.10:g.179117327C>T	NCBI36
NG_011618.3:g.291449G>A , LRG_391:g.291449G>A
NG_051363.1:g.26528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88171G>A (TTN)	ENSP00000343764.6:p.Val29391Met
ENST00000342175.11:c.69256G>A (TTN)	ENSP00000340554.6:p.Val23086Met
ENST00000359218.10:c.69055G>A (TTN)	ENSP00000352154.5:p.Val23019Met
ENST00000342175.10:c.69256G>A (TTN)	ENSP00000340554.6:p.Val23086Met
ENST00000342992.10:c.88171G>A (TTN)	ENSP00000343764.6:p.Val29391Met
ENST00000359218.9:c.69055G>A (TTN)	ENSP00000352154.5:p.Val23019Met
ENST00000460472.6:c.68680G>A (TTN)	ENSP00000434586.1:p.Val22894Met
ENST00000589042.5:c.95875G>A (TTN) MANE Select	ENSP00000467141.1:p.Val31959Met
ENST00000591111.5:c.90952G>A (TTN)	ENSP00000465570.1:p.Val30318Met
ENST00000615779.4:c.90952G>A (TTN)	ENSP00000483597.1:p.Val30318Met
NM_001256850.1:c.90952G>A (TTN)	NP_001243779.1:p.Val30318Met
NM_001267550.2:c.95875G>A (TTN) MANE Select	NP_001254479.2:p.Val31959Met
NM_003319.4:c.68680G>A (TTN)	NP_003310.4:p.Val22894Met
NM_133378.4:c.88171G>A (TTN)	NP_596869.4:p.Val29391Met
NM_133432.3:c.69055G>A (TTN)	NP_597676.3:p.Val23019Met
NM_133437.4:c.69256G>A (TTN)	NP_597681.4:p.Val23086Met
NR_038271.1:n.446+20718C>T (TTN-AS1)
NR_038272.1:n.2043+1993C>T (TTN-AS1)
XM_011511729.1:c.94972G>A (TTN)	XP_011510031.1:p.Val31658Met
XM_011511730.1:c.68866G>A (TTN)	XP_011510032.1:p.Val22956Met
XM_011511731.1:c.68725G>A (TTN)	XP_011510033.1:p.Val22909Met
XM_017004819.1:c.94768G>A (TTN)	XP_016860308.1:p.Val31590Met
XM_017004820.1:c.90166G>A (TTN)	XP_016860309.1:p.Val30056Met
XM_017004821.1:c.90163G>A (TTN)	XP_016860310.1:p.Val30055Met
XM_017004822.1:c.87205G>A (TTN)	XP_016860311.1:p.Val29069Met
XM_017004823.1:c.68821G>A (TTN)	XP_016860312.1:p.Val22941Met
XM_024453094.1:c.90316G>A (TTN)	XP_024308862.1:p.Val30106Met
XM_024453095.1:c.90313G>A (TTN)	XP_024308863.1:p.Val30105Met
XM_024453096.1:c.89746G>A (TTN)	XP_024308864.1:p.Val29916Met
XM_024453097.1:c.87088G>A (TTN)	XP_024308865.1:p.Val29030Met
XM_024453098.1:c.87007G>A (TTN)	XP_024308866.1:p.Val29003Met
XM_024453099.1:c.68770G>A (TTN)	XP_024308867.1:p.Val22924Met
XM_024453100.1:c.58624G>A (TTN)	XP_024308868.1:p.Val19542Met