Canonical Allele Identifier: CA141748

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47705
• ClinVar RCV Id: RCV000040974
• dbSNP Id: rs397517799
• MyVariant Identifiers: chr2:g.179394773G>C (hg19) ; chr2:g.178530046G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530046G>C , CM000664.2:g.178530046G>C	GRCh38
NC_000002.11:g.179394773G>C , CM000664.1:g.179394773G>C	GRCh37
NC_000002.10:g.179103019G>C	NCBI36
NG_011618.3:g.305757C>G , LRG_391:g.305757C>G
NG_051363.1:g.12220G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98741C>G (TTN)	ENSP00000343764.6:p.Thr32914Ser
ENST00000342175.11:c.79826C>G (TTN)	ENSP00000340554.6:p.Thr26609Ser
ENST00000359218.10:c.79625C>G (TTN)	ENSP00000352154.5:p.Thr26542Ser
ENST00000342175.10:c.79826C>G (TTN)	ENSP00000340554.6:p.Thr26609Ser
ENST00000342992.10:c.98741C>G (TTN)	ENSP00000343764.6:p.Thr32914Ser
ENST00000359218.9:c.79625C>G (TTN)	ENSP00000352154.5:p.Thr26542Ser
ENST00000460472.6:c.79250C>G (TTN)	ENSP00000434586.1:p.Thr26417Ser
ENST00000589042.5:c.106445C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr35482Ser
ENST00000591111.5:c.101522C>G (TTN)	ENSP00000465570.1:p.Thr33841Ser
ENST00000615779.4:c.101522C>G (TTN)	ENSP00000483597.1:p.Thr33841Ser
NM_001256850.1:c.101522C>G (TTN)	NP_001243779.1:p.Thr33841Ser
NM_001267550.2:c.106445C>G (TTN) MANE Select	NP_001254479.2:p.Thr35482Ser
NM_003319.4:c.79250C>G (TTN)	NP_003310.4:p.Thr26417Ser
NM_133378.4:c.98741C>G (TTN)	NP_596869.4:p.Thr32914Ser
NM_133432.3:c.79625C>G (TTN)	NP_597676.3:p.Thr26542Ser
NM_133437.4:c.79826C>G (TTN)	NP_597681.4:p.Thr26609Ser
NR_038271.1:n.446+6410G>C (TTN-AS1)
NR_038272.1:n.220-5686G>C (TTN-AS1)
XM_011511729.1:c.105542C>G (TTN)	XP_011510031.1:p.Thr35181Ser
XM_011511730.1:c.79436C>G (TTN)	XP_011510032.1:p.Thr26479Ser
XM_011511731.1:c.79295C>G (TTN)	XP_011510033.1:p.Thr26432Ser
XM_017004819.1:c.105338C>G (TTN)	XP_016860308.1:p.Thr35113Ser
XM_017004820.1:c.100736C>G (TTN)	XP_016860309.1:p.Thr33579Ser
XM_017004821.1:c.100733C>G (TTN)	XP_016860310.1:p.Thr33578Ser
XM_017004822.1:c.97775C>G (TTN)	XP_016860311.1:p.Thr32592Ser
XM_017004823.1:c.79391C>G (TTN)	XP_016860312.1:p.Thr26464Ser
XM_024453094.1:c.100886C>G (TTN)	XP_024308862.1:p.Thr33629Ser
XM_024453095.1:c.100883C>G (TTN)	XP_024308863.1:p.Thr33628Ser
XM_024453096.1:c.100316C>G (TTN)	XP_024308864.1:p.Thr33439Ser
XM_024453097.1:c.97658C>G (TTN)	XP_024308865.1:p.Thr32553Ser
XM_024453098.1:c.97577C>G (TTN)	XP_024308866.1:p.Thr32526Ser
XM_024453099.1:c.79340C>G (TTN)	XP_024308867.1:p.Thr26447Ser
XM_024453100.1:c.69194C>G (TTN)	XP_024308868.1:p.Thr23065Ser