Canonical Allele Identifier: CA349661766

Gene: TTN

Linked Data

• dbSNP Id: rs2060480586
• gnomAD v4: 2-178636713-C-T
• MyVariant Identifiers: chr2:g.179501440C>T (hg19) ; chr2:g.178636713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636713C>T , CM000664.2:g.178636713C>T	GRCh38
NC_000002.11:g.179501440C>T , CM000664.1:g.179501440C>T	GRCh37
NC_000002.10:g.179209685C>T	NCBI36
NG_011618.3:g.199090G>A , LRG_391:g.199090G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.33310G>A	ENSP00000343764.6:p.Ala11104Thr
ENST00000342175.11:c.14395G>A	ENSP00000340554.6:p.Ala4799Thr
ENST00000359218.10:c.14194G>A	ENSP00000352154.5:p.Ala4732Thr
ENST00000342175.10:c.14395G>A	ENSP00000340554.6:p.Ala4799Thr
ENST00000342992.10:c.33310G>A	ENSP00000343764.6:p.Ala11104Thr
ENST00000359218.9:c.14194G>A	ENSP00000352154.5:p.Ala4732Thr
ENST00000460472.6:c.13819G>A	ENSP00000434586.1:p.Ala4607Thr
ENST00000589042.5:c.41014G>A MANE Select	ENSP00000467141.1:p.Ala13672Thr
ENST00000591111.5:c.36091G>A	ENSP00000465570.1:p.Ala12031Thr
ENST00000615779.4:c.36091G>A	ENSP00000483597.1:p.Ala12031Thr
NM_001256850.1:c.36091G>A	NP_001243779.1:p.Ala12031Thr
NM_001267550.2:c.41014G>A MANE Select	NP_001254479.2:p.Ala13672Thr
NM_003319.4:c.13819G>A	NP_003310.4:p.Ala4607Thr
NM_133378.4:c.33310G>A	NP_596869.4:p.Ala11104Thr
NM_133432.3:c.14194G>A	NP_597676.3:p.Ala4732Thr
NM_133437.4:c.14395G>A	NP_597681.4:p.Ala4799Thr
XM_011511729.1:c.40111G>A	XP_011510031.1:p.Ala13371Thr
XM_011511730.1:c.14005G>A	XP_011510032.1:p.Ala4669Thr
XM_011511731.1:c.13864G>A	XP_011510033.1:p.Ala4622Thr
XM_017004819.1:c.39907G>A	XP_016860308.1:p.Ala13303Thr
XM_017004820.1:c.35305G>A	XP_016860309.1:p.Ala11769Thr
XM_017004821.1:c.35302G>A	XP_016860310.1:p.Ala11768Thr
XM_017004822.1:c.32344G>A	XP_016860311.1:p.Ala10782Thr
XM_017004823.1:c.13960G>A	XP_016860312.1:p.Ala4654Thr
XM_024453094.1:c.35455G>A	XP_024308862.1:p.Ala11819Thr
XM_024453095.1:c.35452G>A	XP_024308863.1:p.Ala11818Thr
XM_024453096.1:c.34885G>A	XP_024308864.1:p.Ala11629Thr
XM_024453097.1:c.32227G>A	XP_024308865.1:p.Ala10743Thr
XM_024453098.1:c.32146G>A	XP_024308866.1:p.Ala10716Thr
XM_024453099.1:c.13909G>A	XP_024308867.1:p.Ala4637Thr
XM_024453100.1:c.3763G>A	XP_024308868.1:p.Ala1255Thr