Canonical Allele Identifier: CA349645127

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179494973A>G (hg19) ; chr2:g.178630246A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630246A>G , CM000664.2:g.178630246A>G	GRCh38
NC_000002.11:g.179494973A>G , CM000664.1:g.179494973A>G	GRCh37
NC_000002.10:g.179203218A>G	NCBI36
NG_011618.3:g.205557T>C , LRG_391:g.205557T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36572T>C	ENSP00000343764.6:p.Val12191Ala
ENST00000342175.11:c.17657T>C	ENSP00000340554.6:p.Val5886Ala
ENST00000359218.10:c.17456T>C	ENSP00000352154.5:p.Val5819Ala
ENST00000342175.10:c.17657T>C	ENSP00000340554.6:p.Val5886Ala
ENST00000342992.10:c.36572T>C	ENSP00000343764.6:p.Val12191Ala
ENST00000359218.9:c.17456T>C	ENSP00000352154.5:p.Val5819Ala
ENST00000460472.6:c.17081T>C	ENSP00000434586.1:p.Val5694Ala
ENST00000589042.5:c.44276T>C MANE Select	ENSP00000467141.1:p.Val14759Ala
ENST00000591111.5:c.39353T>C	ENSP00000465570.1:p.Val13118Ala
ENST00000615779.4:c.39353T>C	ENSP00000483597.1:p.Val13118Ala
NM_001256850.1:c.39353T>C	NP_001243779.1:p.Val13118Ala
NM_001267550.2:c.44276T>C MANE Select	NP_001254479.2:p.Val14759Ala
NM_003319.4:c.17081T>C	NP_003310.4:p.Val5694Ala
NM_133378.4:c.36572T>C	NP_596869.4:p.Val12191Ala
NM_133432.3:c.17456T>C	NP_597676.3:p.Val5819Ala
NM_133437.4:c.17657T>C	NP_597681.4:p.Val5886Ala
XM_011511729.1:c.43373T>C	XP_011510031.1:p.Val14458Ala
XM_011511730.1:c.17267T>C	XP_011510032.1:p.Val5756Ala
XM_011511731.1:c.17126T>C	XP_011510033.1:p.Val5709Ala
XM_017004819.1:c.43169T>C	XP_016860308.1:p.Val14390Ala
XM_017004820.1:c.38567T>C	XP_016860309.1:p.Val12856Ala
XM_017004821.1:c.38564T>C	XP_016860310.1:p.Val12855Ala
XM_017004822.1:c.35606T>C	XP_016860311.1:p.Val11869Ala
XM_017004823.1:c.17222T>C	XP_016860312.1:p.Val5741Ala
XM_024453094.1:c.38717T>C	XP_024308862.1:p.Val12906Ala
XM_024453095.1:c.38714T>C	XP_024308863.1:p.Val12905Ala
XM_024453096.1:c.38147T>C	XP_024308864.1:p.Val12716Ala
XM_024453097.1:c.35489T>C	XP_024308865.1:p.Val11830Ala
XM_024453098.1:c.35408T>C	XP_024308866.1:p.Val11803Ala
XM_024453099.1:c.17171T>C	XP_024308867.1:p.Val5724Ala
XM_024453100.1:c.7025T>C	XP_024308868.1:p.Val2342Ala