Canonical Allele Identifier: CA349405502

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2072287
• ClinVar RCV Id: RCV002949529
• MyVariant Identifiers: chr2:g.179394816G>C (hg19) ; chr2:g.178530089G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530089G>C , CM000664.2:g.178530089G>C	GRCh38
NC_000002.11:g.179394816G>C , CM000664.1:g.179394816G>C	GRCh37
NC_000002.10:g.179103062G>C	NCBI36
NG_011618.3:g.305714C>G , LRG_391:g.305714C>G
NG_051363.1:g.12263G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98698C>G (TTN)	ENSP00000343764.6:p.Leu32900Val
ENST00000342175.11:c.79783C>G (TTN)	ENSP00000340554.6:p.Leu26595Val
ENST00000359218.10:c.79582C>G (TTN)	ENSP00000352154.5:p.Leu26528Val
ENST00000342175.10:c.79783C>G (TTN)	ENSP00000340554.6:p.Leu26595Val
ENST00000342992.10:c.98698C>G (TTN)	ENSP00000343764.6:p.Leu32900Val
ENST00000359218.9:c.79582C>G (TTN)	ENSP00000352154.5:p.Leu26528Val
ENST00000460472.6:c.79207C>G (TTN)	ENSP00000434586.1:p.Leu26403Val
ENST00000589042.5:c.106402C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu35468Val
ENST00000591111.5:c.101479C>G (TTN)	ENSP00000465570.1:p.Leu33827Val
ENST00000615779.4:c.101479C>G (TTN)	ENSP00000483597.1:p.Leu33827Val
NM_001256850.1:c.101479C>G (TTN)	NP_001243779.1:p.Leu33827Val
NM_001267550.2:c.106402C>G (TTN) MANE Select	NP_001254479.2:p.Leu35468Val
NM_003319.4:c.79207C>G (TTN)	NP_003310.4:p.Leu26403Val
NM_133378.4:c.98698C>G (TTN)	NP_596869.4:p.Leu32900Val
NM_133432.3:c.79582C>G (TTN)	NP_597676.3:p.Leu26528Val
NM_133437.4:c.79783C>G (TTN)	NP_597681.4:p.Leu26595Val
NR_038271.1:n.446+6453G>C (TTN-AS1)
NR_038272.1:n.220-5643G>C (TTN-AS1)
XM_011511729.1:c.105499C>G (TTN)	XP_011510031.1:p.Leu35167Val
XM_011511730.1:c.79393C>G (TTN)	XP_011510032.1:p.Leu26465Val
XM_011511731.1:c.79252C>G (TTN)	XP_011510033.1:p.Leu26418Val
XM_017004819.1:c.105295C>G (TTN)	XP_016860308.1:p.Leu35099Val
XM_017004820.1:c.100693C>G (TTN)	XP_016860309.1:p.Leu33565Val
XM_017004821.1:c.100690C>G (TTN)	XP_016860310.1:p.Leu33564Val
XM_017004822.1:c.97732C>G (TTN)	XP_016860311.1:p.Leu32578Val
XM_017004823.1:c.79348C>G (TTN)	XP_016860312.1:p.Leu26450Val
XM_024453094.1:c.100843C>G (TTN)	XP_024308862.1:p.Leu33615Val
XM_024453095.1:c.100840C>G (TTN)	XP_024308863.1:p.Leu33614Val
XM_024453096.1:c.100273C>G (TTN)	XP_024308864.1:p.Leu33425Val
XM_024453097.1:c.97615C>G (TTN)	XP_024308865.1:p.Leu32539Val
XM_024453098.1:c.97534C>G (TTN)	XP_024308866.1:p.Leu32512Val
XM_024453099.1:c.79297C>G (TTN)	XP_024308867.1:p.Leu26433Val
XM_024453100.1:c.69151C>G (TTN)	XP_024308868.1:p.Leu23051Val