Canonical Allele Identifier: CA349618697

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482927C>A (hg19) ; chr2:g.178618200C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618200C>A , CM000664.2:g.178618200C>A	GRCh38
NC_000002.11:g.179482927C>A , CM000664.1:g.179482927C>A	GRCh37
NC_000002.10:g.179191172C>A	NCBI36
NG_011618.3:g.217603G>T , LRG_391:g.217603G>T
NG_051363.1:g.100374C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39554G>T (TTN)	ENSP00000343764.6:p.Arg13185Met
ENST00000342175.11:c.20639G>T (TTN)	ENSP00000340554.6:p.Arg6880Met
ENST00000359218.10:c.20438G>T (TTN)	ENSP00000352154.5:p.Arg6813Met
ENST00000342175.10:c.20639G>T (TTN)	ENSP00000340554.6:p.Arg6880Met
ENST00000342992.10:c.39554G>T (TTN)	ENSP00000343764.6:p.Arg13185Met
ENST00000359218.9:c.20438G>T (TTN)	ENSP00000352154.5:p.Arg6813Met
ENST00000460472.6:c.20063G>T (TTN)	ENSP00000434586.1:p.Arg6688Met
ENST00000589042.5:c.47258G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg15753Met
ENST00000591111.5:c.42335G>T (TTN)	ENSP00000465570.1:p.Arg14112Met
ENST00000615779.4:c.42335G>T (TTN)	ENSP00000483597.1:p.Arg14112Met
NM_001256850.1:c.42335G>T (TTN)	NP_001243779.1:p.Arg14112Met
NM_001267550.2:c.47258G>T (TTN) MANE Select	NP_001254479.2:p.Arg15753Met
NM_003319.4:c.20063G>T (TTN)	NP_003310.4:p.Arg6688Met
NM_133378.4:c.39554G>T (TTN)	NP_596869.4:p.Arg13185Met
NM_133432.3:c.20438G>T (TTN)	NP_597676.3:p.Arg6813Met
NM_133437.4:c.20639G>T (TTN)	NP_597681.4:p.Arg6880Met
NR_038271.1:n.1605-1553C>A (TTN-AS1)
XM_011511729.1:c.46355G>T (TTN)	XP_011510031.1:p.Arg15452Met
XM_011511730.1:c.20249G>T (TTN)	XP_011510032.1:p.Arg6750Met
XM_011511731.1:c.20108G>T (TTN)	XP_011510033.1:p.Arg6703Met
XM_017004819.1:c.46151G>T (TTN)	XP_016860308.1:p.Arg15384Met
XM_017004820.1:c.41549G>T (TTN)	XP_016860309.1:p.Arg13850Met
XM_017004821.1:c.41546G>T (TTN)	XP_016860310.1:p.Arg13849Met
XM_017004822.1:c.38588G>T (TTN)	XP_016860311.1:p.Arg12863Met
XM_017004823.1:c.20204G>T (TTN)	XP_016860312.1:p.Arg6735Met
XM_024453094.1:c.41699G>T (TTN)	XP_024308862.1:p.Arg13900Met
XM_024453095.1:c.41696G>T (TTN)	XP_024308863.1:p.Arg13899Met
XM_024453096.1:c.41129G>T (TTN)	XP_024308864.1:p.Arg13710Met
XM_024453097.1:c.38471G>T (TTN)	XP_024308865.1:p.Arg12824Met
XM_024453098.1:c.38390G>T (TTN)	XP_024308866.1:p.Arg12797Met
XM_024453099.1:c.20153G>T (TTN)	XP_024308867.1:p.Arg6718Met
XM_024453100.1:c.10007G>T (TTN)	XP_024308868.1:p.Arg3336Met