Canonical Allele Identifier: CA349517599

Gene: TTN

Linked Data

• ClinVar Variation Id: 493304
• ClinVar RCV Id: RCV000585177
• dbSNP Id: rs1553908254
• MyVariant Identifiers: chr2:g.179585773G>C (hg19) ; chr2:g.178721046G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178721046G>C , CM000664.2:g.178721046G>C	GRCh38
NC_000002.11:g.179585773G>C , CM000664.1:g.179585773G>C	GRCh37
NC_000002.10:g.179294018G>C	NCBI36
NG_011618.3:g.114757C>G , LRG_391:g.114757C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.19241C>G	ENSP00000343764.6:p.Ser6414Ter
ENST00000342175.11:c.13858+17036C>G	ENSP00000340554.6:n.13858+17036C>G
ENST00000359218.10:c.13657+17036C>G	ENSP00000352154.5:n.13657+17036C>G
ENST00000342175.10:c.13858+17036C>G	ENSP00000340554.6:n.13858+17036C>G
ENST00000342992.10:c.19241C>G	ENSP00000343764.6:p.Ser6414Ter
ENST00000359218.9:c.13657+17036C>G	ENSP00000352154.5:n.13657+17036C>G
ENST00000460472.6:c.13282+17036C>G	ENSP00000434586.1:n.13282+17036C>G
ENST00000589042.5:c.22973C>G MANE Select	ENSP00000467141.1:p.Ser7658Ter
ENST00000591111.5:c.22022C>G	ENSP00000465570.1:p.Ser7341Ter
ENST00000615779.4:c.22022C>G	ENSP00000483597.1:p.Ser7341Ter
NM_001256850.1:c.22022C>G	NP_001243779.1:p.Ser7341Ter
NM_001267550.2:c.22973C>G MANE Select	NP_001254479.2:p.Ser7658Ter
NM_003319.4:c.13282+17036C>G	NP_003310.4:n.13282+17036C>G
NM_133378.4:c.19241C>G	NP_596869.4:p.Ser6414Ter
NM_133432.3:c.13657+17036C>G	NP_597676.3:n.13657+17036C>G
NM_133437.4:c.13858+17036C>G	NP_597681.4:n.13858+17036C>G
XM_011511729.1:c.22070C>G	XP_011510031.1:p.Ser7357Ter
XM_011511730.1:c.13468+17036C>G	XP_011510032.1:n.13468+17036C>G
XM_011511731.1:c.13327+17036C>G	XP_011510033.1:n.13327+17036C>G
XM_017004819.1:c.22025C>G	XP_016860308.1:p.Ser7342Ter
XM_017004820.1:c.19244C>G	XP_016860309.1:p.Ser6415Ter
XM_017004821.1:c.19241C>G	XP_016860310.1:p.Ser6414Ter
XM_017004822.1:c.22025C>G	XP_016860311.1:p.Ser7342Ter
XM_017004823.1:c.13423+17036C>G	XP_016860312.1:n.13423+17036C>G
XM_024453094.1:c.22025C>G	XP_024308862.1:p.Ser7342Ter
XM_024453095.1:c.22025C>G	XP_024308863.1:p.Ser7342Ter
XM_024453096.1:c.22025C>G	XP_024308864.1:p.Ser7342Ter
XM_024453097.1:c.22025C>G	XP_024308865.1:p.Ser7342Ter
XM_024453098.1:c.22025C>G	XP_024308866.1:p.Ser7342Ter
XM_024453099.1:c.13423+17036C>G	XP_024308867.1:n.13423+17036C>G