Canonical Allele Identifier: CA349406649

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1041275
• ClinVar RCV Id: RCV001345056
• dbSNP Id: rs906681609
• MyVariant Identifiers: chr2:g.179395143G>C (hg19) ; chr2:g.178530416G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530416G>C , CM000664.2:g.178530416G>C	GRCh38
NC_000002.11:g.179395143G>C , CM000664.1:g.179395143G>C	GRCh37
NC_000002.10:g.179103389G>C	NCBI36
NG_011618.3:g.305387C>G , LRG_391:g.305387C>G
NG_051363.1:g.12590G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98495C>G (TTN)	ENSP00000343764.6:p.Thr32832Ser
ENST00000342175.11:c.79580C>G (TTN)	ENSP00000340554.6:p.Thr26527Ser
ENST00000359218.10:c.79379C>G (TTN)	ENSP00000352154.5:p.Thr26460Ser
ENST00000342175.10:c.79580C>G (TTN)	ENSP00000340554.6:p.Thr26527Ser
ENST00000342992.10:c.98495C>G (TTN)	ENSP00000343764.6:p.Thr32832Ser
ENST00000359218.9:c.79379C>G (TTN)	ENSP00000352154.5:p.Thr26460Ser
ENST00000460472.6:c.79004C>G (TTN)	ENSP00000434586.1:p.Thr26335Ser
ENST00000589042.5:c.106199C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr35400Ser
ENST00000591111.5:c.101276C>G (TTN)	ENSP00000465570.1:p.Thr33759Ser
ENST00000615779.4:c.101276C>G (TTN)	ENSP00000483597.1:p.Thr33759Ser
NM_001256850.1:c.101276C>G (TTN)	NP_001243779.1:p.Thr33759Ser
NM_001267550.2:c.106199C>G (TTN) MANE Select	NP_001254479.2:p.Thr35400Ser
NM_003319.4:c.79004C>G (TTN)	NP_003310.4:p.Thr26335Ser
NM_133378.4:c.98495C>G (TTN)	NP_596869.4:p.Thr32832Ser
NM_133432.3:c.79379C>G (TTN)	NP_597676.3:p.Thr26460Ser
NM_133437.4:c.79580C>G (TTN)	NP_597681.4:p.Thr26527Ser
NR_038271.1:n.446+6780G>C (TTN-AS1)
NR_038272.1:n.220-5316G>C (TTN-AS1)
XM_011511729.1:c.105296C>G (TTN)	XP_011510031.1:p.Thr35099Ser
XM_011511730.1:c.79190C>G (TTN)	XP_011510032.1:p.Thr26397Ser
XM_011511731.1:c.79049C>G (TTN)	XP_011510033.1:p.Thr26350Ser
XM_017004819.1:c.105092C>G (TTN)	XP_016860308.1:p.Thr35031Ser
XM_017004820.1:c.100490C>G (TTN)	XP_016860309.1:p.Thr33497Ser
XM_017004821.1:c.100487C>G (TTN)	XP_016860310.1:p.Thr33496Ser
XM_017004822.1:c.97529C>G (TTN)	XP_016860311.1:p.Thr32510Ser
XM_017004823.1:c.79145C>G (TTN)	XP_016860312.1:p.Thr26382Ser
XM_024453094.1:c.100640C>G (TTN)	XP_024308862.1:p.Thr33547Ser
XM_024453095.1:c.100637C>G (TTN)	XP_024308863.1:p.Thr33546Ser
XM_024453096.1:c.100070C>G (TTN)	XP_024308864.1:p.Thr33357Ser
XM_024453097.1:c.97412C>G (TTN)	XP_024308865.1:p.Thr32471Ser
XM_024453098.1:c.97331C>G (TTN)	XP_024308866.1:p.Thr32444Ser
XM_024453099.1:c.79094C>G (TTN)	XP_024308867.1:p.Thr26365Ser
XM_024453100.1:c.68948C>G (TTN)	XP_024308868.1:p.Thr22983Ser