Canonical Allele Identifier: CA349640316

Gene: TTN

Linked Data

• COSMIC: COSM3572645 ; COSM3572646 ; COSM3572647 ; COSM3572648
• MyVariant Identifiers: chr2:g.179489236C>G (hg19) ; chr2:g.178624509C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624509C>G , CM000664.2:g.178624509C>G	GRCh38
NC_000002.11:g.179489236C>G , CM000664.1:g.179489236C>G	GRCh37
NC_000002.10:g.179197481C>G	NCBI36
NG_011618.3:g.211294G>C , LRG_391:g.211294G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37067G>C	ENSP00000343764.6:p.Cys12356Ser
ENST00000342175.11:c.18152G>C	ENSP00000340554.6:p.Cys6051Ser
ENST00000359218.10:c.17951G>C	ENSP00000352154.5:p.Cys5984Ser
ENST00000342175.10:c.18152G>C	ENSP00000340554.6:p.Cys6051Ser
ENST00000342992.10:c.37067G>C	ENSP00000343764.6:p.Cys12356Ser
ENST00000359218.9:c.17951G>C	ENSP00000352154.5:p.Cys5984Ser
ENST00000460472.6:c.17576G>C	ENSP00000434586.1:p.Cys5859Ser
ENST00000589042.5:c.44771G>C MANE Select	ENSP00000467141.1:p.Cys14924Ser
ENST00000591111.5:c.39848G>C	ENSP00000465570.1:p.Cys13283Ser
ENST00000615779.4:c.39848G>C	ENSP00000483597.1:p.Cys13283Ser
NM_001256850.1:c.39848G>C	NP_001243779.1:p.Cys13283Ser
NM_001267550.2:c.44771G>C MANE Select	NP_001254479.2:p.Cys14924Ser
NM_003319.4:c.17576G>C	NP_003310.4:p.Cys5859Ser
NM_133378.4:c.37067G>C	NP_596869.4:p.Cys12356Ser
NM_133432.3:c.17951G>C	NP_597676.3:p.Cys5984Ser
NM_133437.4:c.18152G>C	NP_597681.4:p.Cys6051Ser
XM_011511729.1:c.43868G>C	XP_011510031.1:p.Cys14623Ser
XM_011511730.1:c.17762G>C	XP_011510032.1:p.Cys5921Ser
XM_011511731.1:c.17621G>C	XP_011510033.1:p.Cys5874Ser
XM_017004819.1:c.43664G>C	XP_016860308.1:p.Cys14555Ser
XM_017004820.1:c.39062G>C	XP_016860309.1:p.Cys13021Ser
XM_017004821.1:c.39059G>C	XP_016860310.1:p.Cys13020Ser
XM_017004822.1:c.36101G>C	XP_016860311.1:p.Cys12034Ser
XM_017004823.1:c.17717G>C	XP_016860312.1:p.Cys5906Ser
XM_024453094.1:c.39212G>C	XP_024308862.1:p.Cys13071Ser
XM_024453095.1:c.39209G>C	XP_024308863.1:p.Cys13070Ser
XM_024453096.1:c.38642G>C	XP_024308864.1:p.Cys12881Ser
XM_024453097.1:c.35984G>C	XP_024308865.1:p.Cys11995Ser
XM_024453098.1:c.35903G>C	XP_024308866.1:p.Cys11968Ser
XM_024453099.1:c.17666G>C	XP_024308867.1:p.Cys5889Ser
XM_024453100.1:c.7520G>C	XP_024308868.1:p.Cys2507Ser