Canonical Allele Identifier: CA349427809

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402309C>A (hg19) ; chr2:g.178537582C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537582C>A , CM000664.2:g.178537582C>A	GRCh38
NC_000002.11:g.179402309C>A , CM000664.1:g.179402309C>A	GRCh37
NC_000002.10:g.179110555C>A	NCBI36
NG_011618.3:g.298221G>T , LRG_391:g.298221G>T
NG_051363.1:g.19756C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.91921G>T (TTN)	ENSP00000343764.6:p.Ala30641Ser
ENST00000342175.11:c.73006G>T (TTN)	ENSP00000340554.6:p.Ala24336Ser
ENST00000359218.10:c.72805G>T (TTN)	ENSP00000352154.5:p.Ala24269Ser
ENST00000342175.10:c.73006G>T (TTN)	ENSP00000340554.6:p.Ala24336Ser
ENST00000342992.10:c.91921G>T (TTN)	ENSP00000343764.6:p.Ala30641Ser
ENST00000359218.9:c.72805G>T (TTN)	ENSP00000352154.5:p.Ala24269Ser
ENST00000460472.6:c.72430G>T (TTN)	ENSP00000434586.1:p.Ala24144Ser
ENST00000589042.5:c.99625G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala33209Ser
ENST00000591111.5:c.94702G>T (TTN)	ENSP00000465570.1:p.Ala31568Ser
ENST00000615779.4:c.94702G>T (TTN)	ENSP00000483597.1:p.Ala31568Ser
NM_001256850.1:c.94702G>T (TTN)	NP_001243779.1:p.Ala31568Ser
NM_001267550.2:c.99625G>T (TTN) MANE Select	NP_001254479.2:p.Ala33209Ser
NM_003319.4:c.72430G>T (TTN)	NP_003310.4:p.Ala24144Ser
NM_133378.4:c.91921G>T (TTN)	NP_596869.4:p.Ala30641Ser
NM_133432.3:c.72805G>T (TTN)	NP_597676.3:p.Ala24269Ser
NM_133437.4:c.73006G>T (TTN)	NP_597681.4:p.Ala24336Ser
NR_038271.1:n.446+13946C>A (TTN-AS1)
NR_038272.1:n.538C>A (TTN-AS1)
XM_011511729.1:c.98722G>T (TTN)	XP_011510031.1:p.Ala32908Ser
XM_011511730.1:c.72616G>T (TTN)	XP_011510032.1:p.Ala24206Ser
XM_011511731.1:c.72475G>T (TTN)	XP_011510033.1:p.Ala24159Ser
XM_017004819.1:c.98518G>T (TTN)	XP_016860308.1:p.Ala32840Ser
XM_017004820.1:c.93916G>T (TTN)	XP_016860309.1:p.Ala31306Ser
XM_017004821.1:c.93913G>T (TTN)	XP_016860310.1:p.Ala31305Ser
XM_017004822.1:c.90955G>T (TTN)	XP_016860311.1:p.Ala30319Ser
XM_017004823.1:c.72571G>T (TTN)	XP_016860312.1:p.Ala24191Ser
XM_024453094.1:c.94066G>T (TTN)	XP_024308862.1:p.Ala31356Ser
XM_024453095.1:c.94063G>T (TTN)	XP_024308863.1:p.Ala31355Ser
XM_024453096.1:c.93496G>T (TTN)	XP_024308864.1:p.Ala31166Ser
XM_024453097.1:c.90838G>T (TTN)	XP_024308865.1:p.Ala30280Ser
XM_024453098.1:c.90757G>T (TTN)	XP_024308866.1:p.Ala30253Ser
XM_024453099.1:c.72520G>T (TTN)	XP_024308867.1:p.Ala24174Ser
XM_024453100.1:c.62374G>T (TTN)	XP_024308868.1:p.Ala20792Ser