Canonical Allele Identifier: CA349411899

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 534977
• ClinVar RCV Id: RCV000642721
• dbSNP Id: rs190565627
• MyVariant Identifiers: chr2:g.179396977C>G (hg19) ; chr2:g.178532250C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532250C>G , CM000664.2:g.178532250C>G	GRCh38
NC_000002.11:g.179396977C>G , CM000664.1:g.179396977C>G	GRCh37
NC_000002.10:g.179105223C>G	NCBI36
NG_011618.3:g.303553G>C , LRG_391:g.303553G>C
NG_051363.1:g.14424C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96661G>C (TTN)	ENSP00000343764.6:p.Glu32221Gln
ENST00000342175.11:c.77746G>C (TTN)	ENSP00000340554.6:p.Glu25916Gln
ENST00000359218.10:c.77545G>C (TTN)	ENSP00000352154.5:p.Glu25849Gln
ENST00000342175.10:c.77746G>C (TTN)	ENSP00000340554.6:p.Glu25916Gln
ENST00000342992.10:c.96661G>C (TTN)	ENSP00000343764.6:p.Glu32221Gln
ENST00000359218.9:c.77545G>C (TTN)	ENSP00000352154.5:p.Glu25849Gln
ENST00000460472.6:c.77170G>C (TTN)	ENSP00000434586.1:p.Glu25724Gln
ENST00000589042.5:c.104365G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu34789Gln
ENST00000591111.5:c.99442G>C (TTN)	ENSP00000465570.1:p.Glu33148Gln
ENST00000615779.4:c.99442G>C (TTN)	ENSP00000483597.1:p.Glu33148Gln
NM_001256850.1:c.99442G>C (TTN)	NP_001243779.1:p.Glu33148Gln
NM_001267550.2:c.104365G>C (TTN) MANE Select	NP_001254479.2:p.Glu34789Gln
NM_003319.4:c.77170G>C (TTN)	NP_003310.4:p.Glu25724Gln
NM_133378.4:c.96661G>C (TTN)	NP_596869.4:p.Glu32221Gln
NM_133432.3:c.77545G>C (TTN)	NP_597676.3:p.Glu25849Gln
NM_133437.4:c.77746G>C (TTN)	NP_597681.4:p.Glu25916Gln
NR_038271.1:n.446+8614C>G (TTN-AS1)
NR_038272.1:n.220-3482C>G (TTN-AS1)
XM_011511729.1:c.103462G>C (TTN)	XP_011510031.1:p.Glu34488Gln
XM_011511730.1:c.77356G>C (TTN)	XP_011510032.1:p.Glu25786Gln
XM_011511731.1:c.77215G>C (TTN)	XP_011510033.1:p.Glu25739Gln
XM_017004819.1:c.103258G>C (TTN)	XP_016860308.1:p.Glu34420Gln
XM_017004820.1:c.98656G>C (TTN)	XP_016860309.1:p.Glu32886Gln
XM_017004821.1:c.98653G>C (TTN)	XP_016860310.1:p.Glu32885Gln
XM_017004822.1:c.95695G>C (TTN)	XP_016860311.1:p.Glu31899Gln
XM_017004823.1:c.77311G>C (TTN)	XP_016860312.1:p.Glu25771Gln
XM_024453094.1:c.98806G>C (TTN)	XP_024308862.1:p.Glu32936Gln
XM_024453095.1:c.98803G>C (TTN)	XP_024308863.1:p.Glu32935Gln
XM_024453096.1:c.98236G>C (TTN)	XP_024308864.1:p.Glu32746Gln
XM_024453097.1:c.95578G>C (TTN)	XP_024308865.1:p.Glu31860Gln
XM_024453098.1:c.95497G>C (TTN)	XP_024308866.1:p.Glu31833Gln
XM_024453099.1:c.77260G>C (TTN)	XP_024308867.1:p.Glu25754Gln
XM_024453100.1:c.67114G>C (TTN)	XP_024308868.1:p.Glu22372Gln