Canonical Allele Identifier: CA1998844

Gene: TTN

Linked Data

• dbSNP Id: rs753332829
• ExAC: 2:179554643 A / AAT
• gnomAD v2: 2-179554643-A-AAT
• MyVariant Identifiers: chr2:g.179554643_179554644insAT (hg19) ; chr2:g.178689916_178689917insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178689917_178689918dup , CM000664.2:g.178689917_178689918dup	GRCh38
NC_000002.11:g.179554644_179554645dup , CM000664.1:g.179554644_179554645dup	GRCh37
NC_000002.10:g.179262889_179262890dup	NCBI36
NG_011618.3:g.145885_145886dup , LRG_391:g.145885_145886dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.28031-22_28031-21dup	ENSP00000343764.6:n.28031-22_28031-21dup
ENST00000342175.11:c.13859-47601_13859-47600dup	ENSP00000340554.6:n.13859-47601_13859-476...
ENST00000359218.10:c.13658-47601_13658-47600dup	ENSP00000352154.5:n.13658-47601_13658-476...
ENST00000342175.10:c.13859-47601_13859-47600dup	ENSP00000340554.6:n.13859-47601_13859-476...
ENST00000342992.10:c.28031-22_28031-21dup	ENSP00000343764.6:n.28031-22_28031-21dup
ENST00000359218.9:c.13658-47601_13658-47600dup	ENSP00000352154.5:n.13658-47601_13658-476...
ENST00000414766.5:c.1397-22_1397-21dup	ENSP00000401501.1:n.1397-22_1397-21dup
ENST00000460472.6:c.13283-47601_13283-47600dup	ENSP00000434586.1:n.13283-47601_13283-476...
ENST00000589042.5:c.31763-22_31763-21dup MANE Select	ENSP00000467141.1:n.31763-22_31763-21dup
ENST00000591111.5:c.30812-22_30812-21dup	ENSP00000465570.1:n.30812-22_30812-21dup
ENST00000615779.4:c.30812-22_30812-21dup	ENSP00000483597.1:n.30812-22_30812-21dup
NM_001256850.1:c.30812-22_30812-21dup	NP_001243779.1:n.30812-22_30812-21dup
NM_001267550.2:c.31763-22_31763-21dup MANE Select	NP_001254479.2:n.31763-22_31763-21dup
NM_003319.4:c.13283-47601_13283-47600dup	NP_003310.4:n.13283-47601_13283-47600dup
NM_133378.4:c.28031-22_28031-21dup	NP_596869.4:n.28031-22_28031-21dup
NM_133432.3:c.13658-47601_13658-47600dup	NP_597676.3:n.13658-47601_13658-47600dup
NM_133437.4:c.13859-47601_13859-47600dup	NP_597681.4:n.13859-47601_13859-47600dup
XM_011511729.1:c.30860-22_30860-21dup	XP_011510031.1:n.30860-22_30860-21dup
XM_011511730.1:c.13469-47601_13469-47600dup	XP_011510032.1:n.13469-47601_13469-47600d...
XM_011511731.1:c.13328-47601_13328-47600dup	XP_011510033.1:n.13328-47601_13328-47600d...
XM_017004819.1:c.30815-22_30815-21dup	XP_016860308.1:n.30815-22_30815-21dup
XM_017004820.1:c.28034-22_28034-21dup	XP_016860309.1:n.28034-22_28034-21dup
XM_017004821.1:c.28031-22_28031-21dup	XP_016860310.1:n.28031-22_28031-21dup
XM_017004822.1:c.30815-22_30815-21dup	XP_016860311.1:n.30815-22_30815-21dup
XM_017004823.1:c.13424-47601_13424-47600dup	XP_016860312.1:n.13424-47601_13424-47600d...
XM_024453094.1:c.30815-22_30815-21dup	XP_024308862.1:n.30815-22_30815-21dup
XM_024453095.1:c.30815-22_30815-21dup	XP_024308863.1:n.30815-22_30815-21dup
XM_024453096.1:c.30815-22_30815-21dup	XP_024308864.1:n.30815-22_30815-21dup
XM_024453097.1:c.30815-22_30815-21dup	XP_024308865.1:n.30815-22_30815-21dup
XM_024453098.1:c.30815-22_30815-21dup	XP_024308866.1:n.30815-22_30815-21dup
XM_024453099.1:c.13424-47601_13424-47600dup	XP_024308867.1:n.13424-47601_13424-47600d...