Canonical Allele Identifier: CA349398232

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1387491
• ClinVar RCV Id: RCV001884078
• dbSNP Id: rs2154129775
• MyVariant Identifiers: chr2:g.179391782C>T (hg19) ; chr2:g.178527055C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527055C>T , CM000664.2:g.178527055C>T	GRCh38
NC_000002.11:g.179391782C>T , CM000664.1:g.179391782C>T	GRCh37
NC_000002.10:g.179100028C>T	NCBI36
NG_011618.3:g.308748G>A , LRG_391:g.308748G>A
NG_051363.1:g.9229C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.100229G>A (TTN)	ENSP00000343764.6:p.Gly33410Glu
ENST00000342175.11:c.81314G>A (TTN)	ENSP00000340554.6:p.Gly27105Glu
ENST00000359218.10:c.81113G>A (TTN)	ENSP00000352154.5:p.Gly27038Glu
ENST00000342175.10:c.81314G>A (TTN)	ENSP00000340554.6:p.Gly27105Glu
ENST00000342992.10:c.100229G>A (TTN)	ENSP00000343764.6:p.Gly33410Glu
ENST00000359218.9:c.81113G>A (TTN)	ENSP00000352154.5:p.Gly27038Glu
ENST00000460472.6:c.80738G>A (TTN)	ENSP00000434586.1:p.Gly26913Glu
ENST00000589042.5:c.107933G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly35978Glu
ENST00000591111.5:c.103010G>A (TTN)	ENSP00000465570.1:p.Gly34337Glu
ENST00000615779.4:c.103010G>A (TTN)	ENSP00000483597.1:p.Gly34337Glu
NM_001256850.1:c.103010G>A (TTN)	NP_001243779.1:p.Gly34337Glu
NM_001267550.2:c.107933G>A (TTN) MANE Select	NP_001254479.2:p.Gly35978Glu
NM_003319.4:c.80738G>A (TTN)	NP_003310.4:p.Gly26913Glu
NM_133378.4:c.100229G>A (TTN)	NP_596869.4:p.Gly33410Glu
NM_133432.3:c.81113G>A (TTN)	NP_597676.3:p.Gly27038Glu
NM_133437.4:c.81314G>A (TTN)	NP_597681.4:p.Gly27105Glu
NR_038271.1:n.446+3419C>T (TTN-AS1)
NR_038272.1:n.219+3419C>T (TTN-AS1)
XM_011511729.1:c.107030G>A (TTN)	XP_011510031.1:p.Gly35677Glu
XM_011511730.1:c.80924G>A (TTN)	XP_011510032.1:p.Gly26975Glu
XM_011511731.1:c.80783G>A (TTN)	XP_011510033.1:p.Gly26928Glu
XM_017004819.1:c.106826G>A (TTN)	XP_016860308.1:p.Gly35609Glu
XM_017004820.1:c.102224G>A (TTN)	XP_016860309.1:p.Gly34075Glu
XM_017004821.1:c.102221G>A (TTN)	XP_016860310.1:p.Gly34074Glu
XM_017004822.1:c.99263G>A (TTN)	XP_016860311.1:p.Gly33088Glu
XM_017004823.1:c.80879G>A (TTN)	XP_016860312.1:p.Gly26960Glu
XM_024453094.1:c.102374G>A (TTN)	XP_024308862.1:p.Gly34125Glu
XM_024453095.1:c.102371G>A (TTN)	XP_024308863.1:p.Gly34124Glu
XM_024453096.1:c.101804G>A (TTN)	XP_024308864.1:p.Gly33935Glu
XM_024453097.1:c.99146G>A (TTN)	XP_024308865.1:p.Gly33049Glu
XM_024453098.1:c.99065G>A (TTN)	XP_024308866.1:p.Gly33022Glu
XM_024453099.1:c.80828G>A (TTN)	XP_024308867.1:p.Gly26943Glu
XM_024453100.1:c.70682G>A (TTN)	XP_024308868.1:p.Gly23561Glu