Canonical Allele Identifier: CA1998846

Gene: TTN

Linked Data

• dbSNP Id: rs757872655
• ExAC: 2:179554645 TGTTA / T
• gnomAD v2: 2-179554645-TGTTA-T
• gnomAD v3: 2-178689918-TGTTA-T
• gnomAD v4: 2-178689918-TGTTA-T
• MyVariant Identifiers: chr2:g.179554646_179554649del (hg19) ; chr2:g.178689919_178689922del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178689922_178689925del , CM000664.2:g.178689922_178689925del	GRCh38
NC_000002.11:g.179554649_179554652del , CM000664.1:g.179554649_179554652del	GRCh37
NC_000002.10:g.179262894_179262897del	NCBI36
NG_011618.3:g.145881_145884del , LRG_391:g.145881_145884del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.28031-26_28031-23del	ENSP00000343764.6:n.28031-26_28031-23del
ENST00000342175.11:c.13859-47605_13859-47602del	ENSP00000340554.6:n.13859-47605_13859-476...
ENST00000359218.10:c.13658-47605_13658-47602del	ENSP00000352154.5:n.13658-47605_13658-476...
ENST00000342175.10:c.13859-47605_13859-47602del	ENSP00000340554.6:n.13859-47605_13859-476...
ENST00000342992.10:c.28031-26_28031-23del	ENSP00000343764.6:n.28031-26_28031-23del
ENST00000359218.9:c.13658-47605_13658-47602del	ENSP00000352154.5:n.13658-47605_13658-476...
ENST00000414766.5:c.1397-26_1397-23del	ENSP00000401501.1:n.1397-26_1397-23del
ENST00000460472.6:c.13283-47605_13283-47602del	ENSP00000434586.1:n.13283-47605_13283-476...
ENST00000589042.5:c.31763-26_31763-23del MANE Select	ENSP00000467141.1:n.31763-26_31763-23del
ENST00000591111.5:c.30812-26_30812-23del	ENSP00000465570.1:n.30812-26_30812-23del
ENST00000615779.4:c.30812-26_30812-23del	ENSP00000483597.1:n.30812-26_30812-23del
NM_001256850.1:c.30812-26_30812-23del	NP_001243779.1:n.30812-26_30812-23del
NM_001267550.2:c.31763-26_31763-23del MANE Select	NP_001254479.2:n.31763-26_31763-23del
NM_003319.4:c.13283-47605_13283-47602del	NP_003310.4:n.13283-47605_13283-47602del
NM_133378.4:c.28031-26_28031-23del	NP_596869.4:n.28031-26_28031-23del
NM_133432.3:c.13658-47605_13658-47602del	NP_597676.3:n.13658-47605_13658-47602del
NM_133437.4:c.13859-47605_13859-47602del	NP_597681.4:n.13859-47605_13859-47602del
XM_011511729.1:c.30860-26_30860-23del	XP_011510031.1:n.30860-26_30860-23del
XM_011511730.1:c.13469-47605_13469-47602del	XP_011510032.1:n.13469-47605_13469-47602d...
XM_011511731.1:c.13328-47605_13328-47602del	XP_011510033.1:n.13328-47605_13328-47602d...
XM_017004819.1:c.30815-26_30815-23del	XP_016860308.1:n.30815-26_30815-23del
XM_017004820.1:c.28034-26_28034-23del	XP_016860309.1:n.28034-26_28034-23del
XM_017004821.1:c.28031-26_28031-23del	XP_016860310.1:n.28031-26_28031-23del
XM_017004822.1:c.30815-26_30815-23del	XP_016860311.1:n.30815-26_30815-23del
XM_017004823.1:c.13424-47605_13424-47602del	XP_016860312.1:n.13424-47605_13424-47602d...
XM_024453094.1:c.30815-26_30815-23del	XP_024308862.1:n.30815-26_30815-23del
XM_024453095.1:c.30815-26_30815-23del	XP_024308863.1:n.30815-26_30815-23del
XM_024453096.1:c.30815-26_30815-23del	XP_024308864.1:n.30815-26_30815-23del
XM_024453097.1:c.30815-26_30815-23del	XP_024308865.1:n.30815-26_30815-23del
XM_024453098.1:c.30815-26_30815-23del	XP_024308866.1:n.30815-26_30815-23del
XM_024453099.1:c.13424-47605_13424-47602del	XP_024308867.1:n.13424-47605_13424-47602d...