Canonical Allele Identifier: CA261859

Gene: TTN

Linked Data

• ClinVar Variation Id: 46997
• ClinVar RCV Id: RCV000040267
• dbSNP Id: rs397517584
• gnomAD v4: 2-178620450-CAT-C
• MyVariant Identifiers: chr2:g.179485178_179485179del (hg19) ; chr2:g.178620451_178620452del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178620451_178620452del , CM000664.2:g.178620451_178620452del	GRCh38
NC_000002.11:g.179485178_179485179del , CM000664.1:g.179485178_179485179del	GRCh37
NC_000002.10:g.179193423_179193424del	NCBI36
NG_011618.3:g.215351_215352del , LRG_391:g.215351_215352del
NG_051363.1:g.102625_102626del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.38365_38366del	ENSP00000343764.6:p.Met12789ValfsTer4
ENST00000342175.11:c.19450_19451del	ENSP00000340554.6:p.Met6484ValfsTer4
ENST00000359218.10:c.19249_19250del	ENSP00000352154.5:p.Met6417ValfsTer4
ENST00000342175.10:c.19450_19451del	ENSP00000340554.6:p.Met6484ValfsTer4
ENST00000342992.10:c.38365_38366del	ENSP00000343764.6:p.Met12789ValfsTer4
ENST00000359218.9:c.19249_19250del	ENSP00000352154.5:p.Met6417ValfsTer4
ENST00000460472.6:c.18874_18875del	ENSP00000434586.1:p.Met6292ValfsTer4
ENST00000589042.5:c.46069_46070del MANE Select	ENSP00000467141.1:p.Met15357ValfsTer4
ENST00000591111.5:c.41146_41147del	ENSP00000465570.1:p.Met13716ValfsTer4
ENST00000615779.4:c.41146_41147del	ENSP00000483597.1:p.Met13716ValfsTer4
NM_001256850.1:c.41146_41147del	NP_001243779.1:p.Met13716ValfsTer4
NM_001267550.2:c.46069_46070del MANE Select	NP_001254479.2:p.Met15357ValfsTer4
NM_003319.4:c.18874_18875del	NP_003310.4:p.Met6292ValfsTer4
NM_133378.4:c.38365_38366del	NP_596869.4:p.Met12789ValfsTer4
NM_133432.3:c.19249_19250del	NP_597676.3:p.Met6417ValfsTer4
NM_133437.4:c.19450_19451del	NP_597681.4:p.Met6484ValfsTer4
XM_011511729.1:c.45166_45167del	XP_011510031.1:p.Met15056ValfsTer4
XM_011511730.1:c.19060_19061del	XP_011510032.1:p.Met6354ValfsTer4
XM_011511731.1:c.18919_18920del	XP_011510033.1:p.Met6307ValfsTer4
XM_017004819.1:c.44962_44963del	XP_016860308.1:p.Met14988ValfsTer4
XM_017004820.1:c.40360_40361del	XP_016860309.1:p.Met13454ValfsTer4
XM_017004821.1:c.40357_40358del	XP_016860310.1:p.Met13453ValfsTer4
XM_017004822.1:c.37399_37400del	XP_016860311.1:p.Met12467ValfsTer4
XM_017004823.1:c.19015_19016del	XP_016860312.1:p.Met6339ValfsTer4
XM_024453094.1:c.40510_40511del	XP_024308862.1:p.Met13504ValfsTer4
XM_024453095.1:c.40507_40508del	XP_024308863.1:p.Met13503ValfsTer4
XM_024453096.1:c.39940_39941del	XP_024308864.1:p.Met13314ValfsTer4
XM_024453097.1:c.37282_37283del	XP_024308865.1:p.Met12428ValfsTer4
XM_024453098.1:c.37201_37202del	XP_024308866.1:p.Met12401ValfsTer4
XM_024453099.1:c.18964_18965del	XP_024308867.1:p.Met6322ValfsTer4
XM_024453100.1:c.8818_8819del	XP_024308868.1:p.Met2940ValfsTer4