Canonical Allele Identifier: CA538437243

Gene: TTN

Linked Data

• dbSNP Id: rs1157220813
• gnomAD v2: 2-179554204-GAAAGACAA-G
• gnomAD v4: 2-178689477-GAAAGACAA-G
• MyVariant Identifiers: chr2:g.179554205_179554212del (hg19) ; chr2:g.178689478_178689485del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178689478_178689485del , CM000664.2:g.178689478_178689485del	GRCh38
NC_000002.11:g.179554205_179554212del , CM000664.1:g.179554205_179554212del	GRCh37
NC_000002.10:g.179262450_179262457del	NCBI36
NG_011618.3:g.146318_146325del , LRG_391:g.146318_146325del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.28195+30_28195+37del	ENSP00000343764.6:n.28195+30_28195+37del
ENST00000342175.11:c.13859-47168_13859-47161del	ENSP00000340554.6:n.13859-47168_13859-471...
ENST00000359218.10:c.13658-47168_13658-47161del	ENSP00000352154.5:n.13658-47168_13658-471...
ENST00000342175.10:c.13859-47168_13859-47161del	ENSP00000340554.6:n.13859-47168_13859-471...
ENST00000342992.10:c.28195+30_28195+37del	ENSP00000343764.6:n.28195+30_28195+37del
ENST00000359218.9:c.13658-47168_13658-47161del	ENSP00000352154.5:n.13658-47168_13658-471...
ENST00000414766.5:c.1561+30_1561+37del	ENSP00000401501.1:n.1561+30_1561+37del
ENST00000460472.6:c.13283-47168_13283-47161del	ENSP00000434586.1:n.13283-47168_13283-471...
ENST00000589042.5:c.31927+30_31927+37del MANE Select	ENSP00000467141.1:n.31927+30_31927+37del
ENST00000591111.5:c.30976+30_30976+37del	ENSP00000465570.1:n.30976+30_30976+37del
ENST00000615779.4:c.30976+30_30976+37del	ENSP00000483597.1:n.30976+30_30976+37del
NM_001256850.1:c.30976+30_30976+37del	NP_001243779.1:n.30976+30_30976+37del
NM_001267550.2:c.31927+30_31927+37del MANE Select	NP_001254479.2:n.31927+30_31927+37del
NM_003319.4:c.13283-47168_13283-47161del	NP_003310.4:n.13283-47168_13283-47161del
NM_133378.4:c.28195+30_28195+37del	NP_596869.4:n.28195+30_28195+37del
NM_133432.3:c.13658-47168_13658-47161del	NP_597676.3:n.13658-47168_13658-47161del
NM_133437.4:c.13859-47168_13859-47161del	NP_597681.4:n.13859-47168_13859-47161del
XM_011511729.1:c.31024+30_31024+37del	XP_011510031.1:n.31024+30_31024+37del
XM_011511730.1:c.13469-47168_13469-47161del	XP_011510032.1:n.13469-47168_13469-47161d...
XM_011511731.1:c.13328-47168_13328-47161del	XP_011510033.1:n.13328-47168_13328-47161d...
XM_017004819.1:c.30979+30_30979+37del	XP_016860308.1:n.30979+30_30979+37del
XM_017004820.1:c.28198+30_28198+37del	XP_016860309.1:n.28198+30_28198+37del
XM_017004821.1:c.28195+30_28195+37del	XP_016860310.1:n.28195+30_28195+37del
XM_017004822.1:c.30979+30_30979+37del	XP_016860311.1:n.30979+30_30979+37del
XM_017004823.1:c.13424-47168_13424-47161del	XP_016860312.1:n.13424-47168_13424-47161d...
XM_024453094.1:c.30979+30_30979+37del	XP_024308862.1:n.30979+30_30979+37del
XM_024453095.1:c.30979+30_30979+37del	XP_024308863.1:n.30979+30_30979+37del
XM_024453096.1:c.30979+30_30979+37del	XP_024308864.1:n.30979+30_30979+37del
XM_024453097.1:c.30898+328_30898+335del	XP_024308865.1:n.30898+328_30898+335del
XM_024453098.1:c.30898+328_30898+335del	XP_024308866.1:n.30898+328_30898+335del
XM_024453099.1:c.13424-47168_13424-47161del	XP_024308867.1:n.13424-47168_13424-47161d...