Canonical Allele Identifier: CA349456957

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178544387-T-G
• MyVariant Identifiers: chr2:g.179409114T>G (hg19) ; chr2:g.178544387T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544387T>G , CM000664.2:g.178544387T>G	GRCh38
NC_000002.11:g.179409114T>G , CM000664.1:g.179409114T>G	GRCh37
NC_000002.10:g.179117360T>G	NCBI36
NG_011618.3:g.291416A>C , LRG_391:g.291416A>C
NG_051363.1:g.26561T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88138A>C (TTN)	ENSP00000343764.6:p.Met29380Leu
ENST00000342175.11:c.69223A>C (TTN)	ENSP00000340554.6:p.Met23075Leu
ENST00000359218.10:c.69022A>C (TTN)	ENSP00000352154.5:p.Met23008Leu
ENST00000342175.10:c.69223A>C (TTN)	ENSP00000340554.6:p.Met23075Leu
ENST00000342992.10:c.88138A>C (TTN)	ENSP00000343764.6:p.Met29380Leu
ENST00000359218.9:c.69022A>C (TTN)	ENSP00000352154.5:p.Met23008Leu
ENST00000460472.6:c.68647A>C (TTN)	ENSP00000434586.1:p.Met22883Leu
ENST00000589042.5:c.95842A>C (TTN) MANE Select	ENSP00000467141.1:p.Met31948Leu
ENST00000591111.5:c.90919A>C (TTN)	ENSP00000465570.1:p.Met30307Leu
ENST00000615779.4:c.90919A>C (TTN)	ENSP00000483597.1:p.Met30307Leu
NM_001256850.1:c.90919A>C (TTN)	NP_001243779.1:p.Met30307Leu
NM_001267550.2:c.95842A>C (TTN) MANE Select	NP_001254479.2:p.Met31948Leu
NM_003319.4:c.68647A>C (TTN)	NP_003310.4:p.Met22883Leu
NM_133378.4:c.88138A>C (TTN)	NP_596869.4:p.Met29380Leu
NM_133432.3:c.69022A>C (TTN)	NP_597676.3:p.Met23008Leu
NM_133437.4:c.69223A>C (TTN)	NP_597681.4:p.Met23075Leu
NR_038271.1:n.446+20751T>G (TTN-AS1)
NR_038272.1:n.2043+2026T>G (TTN-AS1)
XM_011511729.1:c.94939A>C (TTN)	XP_011510031.1:p.Met31647Leu
XM_011511730.1:c.68833A>C (TTN)	XP_011510032.1:p.Met22945Leu
XM_011511731.1:c.68692A>C (TTN)	XP_011510033.1:p.Met22898Leu
XM_017004819.1:c.94735A>C (TTN)	XP_016860308.1:p.Met31579Leu
XM_017004820.1:c.90133A>C (TTN)	XP_016860309.1:p.Met30045Leu
XM_017004821.1:c.90130A>C (TTN)	XP_016860310.1:p.Met30044Leu
XM_017004822.1:c.87172A>C (TTN)	XP_016860311.1:p.Met29058Leu
XM_017004823.1:c.68788A>C (TTN)	XP_016860312.1:p.Met22930Leu
XM_024453094.1:c.90283A>C (TTN)	XP_024308862.1:p.Met30095Leu
XM_024453095.1:c.90280A>C (TTN)	XP_024308863.1:p.Met30094Leu
XM_024453096.1:c.89713A>C (TTN)	XP_024308864.1:p.Met29905Leu
XM_024453097.1:c.87055A>C (TTN)	XP_024308865.1:p.Met29019Leu
XM_024453098.1:c.86974A>C (TTN)	XP_024308866.1:p.Met28992Leu
XM_024453099.1:c.68737A>C (TTN)	XP_024308867.1:p.Met22913Leu
XM_024453100.1:c.58591A>C (TTN)	XP_024308868.1:p.Met19531Leu