Canonical Allele Identifier: CA349434907

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179404804C>A (hg19) ; chr2:g.178540077C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178540077C>A , CM000664.2:g.178540077C>A	GRCh38
NC_000002.11:g.179404804C>A , CM000664.1:g.179404804C>A	GRCh37
NC_000002.10:g.179113050C>A	NCBI36
NG_011618.3:g.295726G>T , LRG_391:g.295726G>T
NG_051363.1:g.22251C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.90385G>T (TTN)	ENSP00000343764.6:p.Glu30129Ter
ENST00000342175.11:c.71470G>T (TTN)	ENSP00000340554.6:p.Glu23824Ter
ENST00000359218.10:c.71269G>T (TTN)	ENSP00000352154.5:p.Glu23757Ter
ENST00000342175.10:c.71470G>T (TTN)	ENSP00000340554.6:p.Glu23824Ter
ENST00000342992.10:c.90385G>T (TTN)	ENSP00000343764.6:p.Glu30129Ter
ENST00000359218.9:c.71269G>T (TTN)	ENSP00000352154.5:p.Glu23757Ter
ENST00000460472.6:c.70894G>T (TTN)	ENSP00000434586.1:p.Glu23632Ter
ENST00000589042.5:c.98089G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu32697Ter
ENST00000591111.5:c.93166G>T (TTN)	ENSP00000465570.1:p.Glu31056Ter
ENST00000615779.4:c.93166G>T (TTN)	ENSP00000483597.1:p.Glu31056Ter
NM_001256850.1:c.93166G>T (TTN)	NP_001243779.1:p.Glu31056Ter
NM_001267550.2:c.98089G>T (TTN) MANE Select	NP_001254479.2:p.Glu32697Ter
NM_003319.4:c.70894G>T (TTN)	NP_003310.4:p.Glu23632Ter
NM_133378.4:c.90385G>T (TTN)	NP_596869.4:p.Glu30129Ter
NM_133432.3:c.71269G>T (TTN)	NP_597676.3:p.Glu23757Ter
NM_133437.4:c.71470G>T (TTN)	NP_597681.4:p.Glu23824Ter
NR_038271.1:n.446+16441C>A (TTN-AS1)
NR_038272.1:n.1841-30C>A (TTN-AS1)
XM_011511729.1:c.97186G>T (TTN)	XP_011510031.1:p.Glu32396Ter
XM_011511730.1:c.71080G>T (TTN)	XP_011510032.1:p.Glu23694Ter
XM_011511731.1:c.70939G>T (TTN)	XP_011510033.1:p.Glu23647Ter
XM_017004819.1:c.96982G>T (TTN)	XP_016860308.1:p.Glu32328Ter
XM_017004820.1:c.92380G>T (TTN)	XP_016860309.1:p.Glu30794Ter
XM_017004821.1:c.92377G>T (TTN)	XP_016860310.1:p.Glu30793Ter
XM_017004822.1:c.89419G>T (TTN)	XP_016860311.1:p.Glu29807Ter
XM_017004823.1:c.71035G>T (TTN)	XP_016860312.1:p.Glu23679Ter
XM_024453094.1:c.92530G>T (TTN)	XP_024308862.1:p.Glu30844Ter
XM_024453095.1:c.92527G>T (TTN)	XP_024308863.1:p.Glu30843Ter
XM_024453096.1:c.91960G>T (TTN)	XP_024308864.1:p.Glu30654Ter
XM_024453097.1:c.89302G>T (TTN)	XP_024308865.1:p.Glu29768Ter
XM_024453098.1:c.89221G>T (TTN)	XP_024308866.1:p.Glu29741Ter
XM_024453099.1:c.70984G>T (TTN)	XP_024308867.1:p.Glu23662Ter
XM_024453100.1:c.60838G>T (TTN)	XP_024308868.1:p.Glu20280Ter