Canonical Allele Identifier: CA349661791

Gene: TTN

Linked Data

• dbSNP Id: rs1464359988
• gnomAD v2: 2-179501446-C-T
• gnomAD v3: 2-178636719-C-T
• gnomAD v4: 2-178636719-C-T
• MyVariant Identifiers: chr2:g.179501446C>T (hg19) ; chr2:g.179501446_179501449delinsTAGG (hg19) ; chr2:g.178636719C>T (hg38) ; chr2:g.178636719_178636722delinsTAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636719C>T , CM000664.2:g.178636719C>T	GRCh38
NC_000002.11:g.179501446C>T , CM000664.1:g.179501446C>T	GRCh37
NC_000002.10:g.179209691C>T	NCBI36
NG_011618.3:g.199084G>A , LRG_391:g.199084G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.33304G>A	ENSP00000343764.6:p.Asp11102Asn
ENST00000342175.11:c.14389G>A	ENSP00000340554.6:p.Asp4797Asn
ENST00000359218.10:c.14188G>A	ENSP00000352154.5:p.Asp4730Asn
ENST00000342175.10:c.14389G>A	ENSP00000340554.6:p.Asp4797Asn
ENST00000342992.10:c.33304G>A	ENSP00000343764.6:p.Asp11102Asn
ENST00000359218.9:c.14188G>A	ENSP00000352154.5:p.Asp4730Asn
ENST00000460472.6:c.13813G>A	ENSP00000434586.1:p.Asp4605Asn
ENST00000589042.5:c.41008G>A MANE Select	ENSP00000467141.1:p.Asp13670Asn
ENST00000591111.5:c.36085G>A	ENSP00000465570.1:p.Asp12029Asn
ENST00000615779.4:c.36085G>A	ENSP00000483597.1:p.Asp12029Asn
NM_001256850.1:c.36085G>A	NP_001243779.1:p.Asp12029Asn
NM_001267550.2:c.41008G>A MANE Select	NP_001254479.2:p.Asp13670Asn
NM_003319.4:c.13813G>A	NP_003310.4:p.Asp4605Asn
NM_133378.4:c.33304G>A	NP_596869.4:p.Asp11102Asn
NM_133432.3:c.14188G>A	NP_597676.3:p.Asp4730Asn
NM_133437.4:c.14389G>A	NP_597681.4:p.Asp4797Asn
XM_011511729.1:c.40105G>A	XP_011510031.1:p.Asp13369Asn
XM_011511730.1:c.13999G>A	XP_011510032.1:p.Asp4667Asn
XM_011511731.1:c.13858G>A	XP_011510033.1:p.Asp4620Asn
XM_017004819.1:c.39901G>A	XP_016860308.1:p.Asp13301Asn
XM_017004820.1:c.35299G>A	XP_016860309.1:p.Asp11767Asn
XM_017004821.1:c.35296G>A	XP_016860310.1:p.Asp11766Asn
XM_017004822.1:c.32338G>A	XP_016860311.1:p.Asp10780Asn
XM_017004823.1:c.13954G>A	XP_016860312.1:p.Asp4652Asn
XM_024453094.1:c.35449G>A	XP_024308862.1:p.Asp11817Asn
XM_024453095.1:c.35446G>A	XP_024308863.1:p.Asp11816Asn
XM_024453096.1:c.34879G>A	XP_024308864.1:p.Asp11627Asn
XM_024453097.1:c.32221G>A	XP_024308865.1:p.Asp10741Asn
XM_024453098.1:c.32140G>A	XP_024308866.1:p.Asp10714Asn
XM_024453099.1:c.13903G>A	XP_024308867.1:p.Asp4635Asn
XM_024453100.1:c.3757G>A	XP_024308868.1:p.Asp1253Asn