Canonical Allele Identifier: CA538435579

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 509608
• ClinVar RCV Id: RCV000606275 ; RCV000694600
• dbSNP Id: rs1338225091
• gnomAD v2: 2-179456626-AAAG-A
• gnomAD v3: 2-178591899-AAAG-A
• gnomAD v4: 2-178591899-AAAG-A
• MyVariant Identifiers: chr2:g.179456627_179456629del (hg19) ; chr2:g.178591900_178591902del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591906_178591908del , CM000664.2:g.178591906_178591908del	GRCh38
NC_000002.11:g.179456633_179456635del , CM000664.1:g.179456633_179456635del	GRCh37
NC_000002.10:g.179164879_179164881del	NCBI36
NG_011618.3:g.243901_243903del , LRG_391:g.243901_243903del
NG_051363.1:g.74080_74082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52223-10_52223-8del (TTN)	ENSP00000343764.6:n.52223-10_52223-8del
ENST00000342175.11:c.33308-10_33308-8del (TTN)	ENSP00000340554.6:n.33308-10_33308-8del
ENST00000359218.10:c.33107-10_33107-8del (TTN)	ENSP00000352154.5:n.33107-10_33107-8del
ENST00000342175.10:c.33308-10_33308-8del (TTN)	ENSP00000340554.6:n.33308-10_33308-8del
ENST00000342992.10:c.52223-10_52223-8del (TTN)	ENSP00000343764.6:n.52223-10_52223-8del
ENST00000359218.9:c.33107-10_33107-8del (TTN)	ENSP00000352154.5:n.33107-10_33107-8del
ENST00000460472.6:c.32732-10_32732-8del (TTN)	ENSP00000434586.1:n.32732-10_32732-8del
ENST00000589042.5:c.59927-10_59927-8del (TTN) MANE Select	ENSP00000467141.1:n.59927-10_59927-8del
ENST00000591111.5:c.55004-10_55004-8del (TTN)	ENSP00000465570.1:n.55004-10_55004-8del
ENST00000615779.4:c.55004-10_55004-8del (TTN)	ENSP00000483597.1:n.55004-10_55004-8del
NM_001256850.1:c.55004-10_55004-8del (TTN)	NP_001243779.1:n.55004-10_55004-8del
NM_001267550.2:c.59927-10_59927-8del (TTN) MANE Select	NP_001254479.2:n.59927-10_59927-8del
NM_003319.4:c.32732-10_32732-8del (TTN)	NP_003310.4:n.32732-10_32732-8del
NM_133378.4:c.52223-10_52223-8del (TTN)	NP_596869.4:n.52223-10_52223-8del
NM_133432.3:c.33107-10_33107-8del (TTN)	NP_597676.3:n.33107-10_33107-8del
NM_133437.4:c.33308-10_33308-8del (TTN)	NP_597681.4:n.33308-10_33308-8del
NR_038271.1:n.597-5690_597-5688del (TTN-AS1)
NR_038272.1:n.3364+592_3364+594del (TTN-AS1)
XM_011511729.1:c.59024-10_59024-8del (TTN)	XP_011510031.1:n.59024-10_59024-8del
XM_011511730.1:c.32918-10_32918-8del (TTN)	XP_011510032.1:n.32918-10_32918-8del
XM_011511731.1:c.32777-10_32777-8del (TTN)	XP_011510033.1:n.32777-10_32777-8del
XM_017004819.1:c.58820-10_58820-8del (TTN)	XP_016860308.1:n.58820-10_58820-8del
XM_017004820.1:c.54218-10_54218-8del (TTN)	XP_016860309.1:n.54218-10_54218-8del
XM_017004821.1:c.54215-10_54215-8del (TTN)	XP_016860310.1:n.54215-10_54215-8del
XM_017004822.1:c.51257-10_51257-8del (TTN)	XP_016860311.1:n.51257-10_51257-8del
XM_017004823.1:c.32873-10_32873-8del (TTN)	XP_016860312.1:n.32873-10_32873-8del
XM_024453094.1:c.54368-10_54368-8del (TTN)	XP_024308862.1:n.54368-10_54368-8del
XM_024453095.1:c.54365-10_54365-8del (TTN)	XP_024308863.1:n.54365-10_54365-8del
XM_024453096.1:c.53798-10_53798-8del (TTN)	XP_024308864.1:n.53798-10_53798-8del
XM_024453097.1:c.51140-10_51140-8del (TTN)	XP_024308865.1:n.51140-10_51140-8del
XM_024453098.1:c.51059-10_51059-8del (TTN)	XP_024308866.1:n.51059-10_51059-8del
XM_024453099.1:c.32822-10_32822-8del (TTN)	XP_024308867.1:n.32822-10_32822-8del
XM_024453100.1:c.22676-10_22676-8del (TTN)	XP_024308868.1:n.22676-10_22676-8del