Canonical Allele Identifier: CA349635706

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179486369A>G (hg19) ; chr2:g.178621642A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621642A>G , CM000664.2:g.178621642A>G	GRCh38
NC_000002.11:g.179486369A>G , CM000664.1:g.179486369A>G	GRCh37
NC_000002.10:g.179194614A>G	NCBI36
NG_011618.3:g.214161T>C , LRG_391:g.214161T>C
NG_051363.1:g.103816A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37478T>C	ENSP00000343764.6:p.Val12493Ala
ENST00000342175.11:c.18563T>C	ENSP00000340554.6:p.Val6188Ala
ENST00000359218.10:c.18362T>C	ENSP00000352154.5:p.Val6121Ala
ENST00000342175.10:c.18563T>C	ENSP00000340554.6:p.Val6188Ala
ENST00000342992.10:c.37478T>C	ENSP00000343764.6:p.Val12493Ala
ENST00000359218.9:c.18362T>C	ENSP00000352154.5:p.Val6121Ala
ENST00000460472.6:c.17987T>C	ENSP00000434586.1:p.Val5996Ala
ENST00000589042.5:c.45182T>C MANE Select	ENSP00000467141.1:p.Val15061Ala
ENST00000591111.5:c.40259T>C	ENSP00000465570.1:p.Val13420Ala
ENST00000615779.4:c.40259T>C	ENSP00000483597.1:p.Val13420Ala
NM_001256850.1:c.40259T>C	NP_001243779.1:p.Val13420Ala
NM_001267550.2:c.45182T>C MANE Select	NP_001254479.2:p.Val15061Ala
NM_003319.4:c.17987T>C	NP_003310.4:p.Val5996Ala
NM_133378.4:c.37478T>C	NP_596869.4:p.Val12493Ala
NM_133432.3:c.18362T>C	NP_597676.3:p.Val6121Ala
NM_133437.4:c.18563T>C	NP_597681.4:p.Val6188Ala
XM_011511729.1:c.44279T>C	XP_011510031.1:p.Val14760Ala
XM_011511730.1:c.18173T>C	XP_011510032.1:p.Val6058Ala
XM_011511731.1:c.18032T>C	XP_011510033.1:p.Val6011Ala
XM_017004819.1:c.44075T>C	XP_016860308.1:p.Val14692Ala
XM_017004820.1:c.39473T>C	XP_016860309.1:p.Val13158Ala
XM_017004821.1:c.39470T>C	XP_016860310.1:p.Val13157Ala
XM_017004822.1:c.36512T>C	XP_016860311.1:p.Val12171Ala
XM_017004823.1:c.18128T>C	XP_016860312.1:p.Val6043Ala
XM_024453094.1:c.39623T>C	XP_024308862.1:p.Val13208Ala
XM_024453095.1:c.39620T>C	XP_024308863.1:p.Val13207Ala
XM_024453096.1:c.39053T>C	XP_024308864.1:p.Val13018Ala
XM_024453097.1:c.36395T>C	XP_024308865.1:p.Val12132Ala
XM_024453098.1:c.36314T>C	XP_024308866.1:p.Val12105Ala
XM_024453099.1:c.18077T>C	XP_024308867.1:p.Val6026Ala
XM_024453100.1:c.7931T>C	XP_024308868.1:p.Val2644Ala