Canonical Allele Identifier: CA349661761

Gene: TTN

Linked Data

• gnomAD v4: 2-178636712-G-A
• MyVariant Identifiers: chr2:g.179501439G>A (hg19) ; chr2:g.178636712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636712G>A , CM000664.2:g.178636712G>A	GRCh38
NC_000002.11:g.179501439G>A , CM000664.1:g.179501439G>A	GRCh37
NC_000002.10:g.179209684G>A	NCBI36
NG_011618.3:g.199091C>T , LRG_391:g.199091C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.33311C>T	ENSP00000343764.6:p.Ala11104Val
ENST00000342175.11:c.14396C>T	ENSP00000340554.6:p.Ala4799Val
ENST00000359218.10:c.14195C>T	ENSP00000352154.5:p.Ala4732Val
ENST00000342175.10:c.14396C>T	ENSP00000340554.6:p.Ala4799Val
ENST00000342992.10:c.33311C>T	ENSP00000343764.6:p.Ala11104Val
ENST00000359218.9:c.14195C>T	ENSP00000352154.5:p.Ala4732Val
ENST00000460472.6:c.13820C>T	ENSP00000434586.1:p.Ala4607Val
ENST00000589042.5:c.41015C>T MANE Select	ENSP00000467141.1:p.Ala13672Val
ENST00000591111.5:c.36092C>T	ENSP00000465570.1:p.Ala12031Val
ENST00000615779.4:c.36092C>T	ENSP00000483597.1:p.Ala12031Val
NM_001256850.1:c.36092C>T	NP_001243779.1:p.Ala12031Val
NM_001267550.2:c.41015C>T MANE Select	NP_001254479.2:p.Ala13672Val
NM_003319.4:c.13820C>T	NP_003310.4:p.Ala4607Val
NM_133378.4:c.33311C>T	NP_596869.4:p.Ala11104Val
NM_133432.3:c.14195C>T	NP_597676.3:p.Ala4732Val
NM_133437.4:c.14396C>T	NP_597681.4:p.Ala4799Val
XM_011511729.1:c.40112C>T	XP_011510031.1:p.Ala13371Val
XM_011511730.1:c.14006C>T	XP_011510032.1:p.Ala4669Val
XM_011511731.1:c.13865C>T	XP_011510033.1:p.Ala4622Val
XM_017004819.1:c.39908C>T	XP_016860308.1:p.Ala13303Val
XM_017004820.1:c.35306C>T	XP_016860309.1:p.Ala11769Val
XM_017004821.1:c.35303C>T	XP_016860310.1:p.Ala11768Val
XM_017004822.1:c.32345C>T	XP_016860311.1:p.Ala10782Val
XM_017004823.1:c.13961C>T	XP_016860312.1:p.Ala4654Val
XM_024453094.1:c.35456C>T	XP_024308862.1:p.Ala11819Val
XM_024453095.1:c.35453C>T	XP_024308863.1:p.Ala11818Val
XM_024453096.1:c.34886C>T	XP_024308864.1:p.Ala11629Val
XM_024453097.1:c.32228C>T	XP_024308865.1:p.Ala10743Val
XM_024453098.1:c.32147C>T	XP_024308866.1:p.Ala10716Val
XM_024453099.1:c.13910C>T	XP_024308867.1:p.Ala4637Val
XM_024453100.1:c.3764C>T	XP_024308868.1:p.Ala1255Val