Canonical Allele Identifier: CA430235624

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 755196
• ClinVar RCV Id: RCV000932590
• dbSNP Id: rs1306036159
• MyVariant Identifiers: chr2:g.179395361C>T (hg19) ; chr2:g.178530634C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530634C>T , CM000664.2:g.178530634C>T	GRCh38
NC_000002.11:g.179395361C>T , CM000664.1:g.179395361C>T	GRCh37
NC_000002.10:g.179103607C>T	NCBI36
NG_011618.3:g.305169G>A , LRG_391:g.305169G>A
NG_051363.1:g.12808C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98277G>A (TTN)	ENSP00000343764.6:p.Lys32759=
ENST00000342175.11:c.79362G>A (TTN)	ENSP00000340554.6:p.Lys26454=
ENST00000359218.10:c.79161G>A (TTN)	ENSP00000352154.5:p.Lys26387=
ENST00000342175.10:c.79362G>A (TTN)	ENSP00000340554.6:p.Lys26454=
ENST00000342992.10:c.98277G>A (TTN)	ENSP00000343764.6:p.Lys32759=
ENST00000359218.9:c.79161G>A (TTN)	ENSP00000352154.5:p.Lys26387=
ENST00000460472.6:c.78786G>A (TTN)	ENSP00000434586.1:p.Lys26262=
ENST00000589042.5:c.105981G>A (TTN) MANE Select	ENSP00000467141.1:p.Lys35327=
ENST00000591111.5:c.101058G>A (TTN)	ENSP00000465570.1:p.Lys33686=
ENST00000615779.4:c.101058G>A (TTN)	ENSP00000483597.1:p.Lys33686=
NM_001256850.1:c.101058G>A (TTN)	NP_001243779.1:p.Lys33686=
NM_001267550.2:c.105981G>A (TTN) MANE Select	NP_001254479.2:p.Lys35327=
NM_003319.4:c.78786G>A (TTN)	NP_003310.4:p.Lys26262=
NM_133378.4:c.98277G>A (TTN)	NP_596869.4:p.Lys32759=
NM_133432.3:c.79161G>A (TTN)	NP_597676.3:p.Lys26387=
NM_133437.4:c.79362G>A (TTN)	NP_597681.4:p.Lys26454=
NR_038271.1:n.446+6998C>T (TTN-AS1)
NR_038272.1:n.220-5098C>T (TTN-AS1)
XM_011511729.1:c.105078G>A (TTN)	XP_011510031.1:p.Lys35026=
XM_011511730.1:c.78972G>A (TTN)	XP_011510032.1:p.Lys26324=
XM_011511731.1:c.78831G>A (TTN)	XP_011510033.1:p.Lys26277=
XM_017004819.1:c.104874G>A (TTN)	XP_016860308.1:p.Lys34958=
XM_017004820.1:c.100272G>A (TTN)	XP_016860309.1:p.Lys33424=
XM_017004821.1:c.100269G>A (TTN)	XP_016860310.1:p.Lys33423=
XM_017004822.1:c.97311G>A (TTN)	XP_016860311.1:p.Lys32437=
XM_017004823.1:c.78927G>A (TTN)	XP_016860312.1:p.Lys26309=
XM_024453094.1:c.100422G>A (TTN)	XP_024308862.1:p.Lys33474=
XM_024453095.1:c.100419G>A (TTN)	XP_024308863.1:p.Lys33473=
XM_024453096.1:c.99852G>A (TTN)	XP_024308864.1:p.Lys33284=
XM_024453097.1:c.97194G>A (TTN)	XP_024308865.1:p.Lys32398=
XM_024453098.1:c.97113G>A (TTN)	XP_024308866.1:p.Lys32371=
XM_024453099.1:c.78876G>A (TTN)	XP_024308867.1:p.Lys26292=
XM_024453100.1:c.68730G>A (TTN)	XP_024308868.1:p.Lys22910=