Canonical Allele Identifier: CA349646339

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495652A>G (hg19) ; chr2:g.178630925A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630925A>G , CM000664.2:g.178630925A>G	GRCh38
NC_000002.11:g.179495652A>G , CM000664.1:g.179495652A>G	GRCh37
NC_000002.10:g.179203897A>G	NCBI36
NG_011618.3:g.204878T>C , LRG_391:g.204878T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36329T>C	ENSP00000343764.6:p.Val12110Ala
ENST00000342175.11:c.17414T>C	ENSP00000340554.6:p.Val5805Ala
ENST00000359218.10:c.17213T>C	ENSP00000352154.5:p.Val5738Ala
ENST00000342175.10:c.17414T>C	ENSP00000340554.6:p.Val5805Ala
ENST00000342992.10:c.36329T>C	ENSP00000343764.6:p.Val12110Ala
ENST00000359218.9:c.17213T>C	ENSP00000352154.5:p.Val5738Ala
ENST00000460472.6:c.16838T>C	ENSP00000434586.1:p.Val5613Ala
ENST00000589042.5:c.44033T>C MANE Select	ENSP00000467141.1:p.Val14678Ala
ENST00000591111.5:c.39110T>C	ENSP00000465570.1:p.Val13037Ala
ENST00000615779.4:c.39110T>C	ENSP00000483597.1:p.Val13037Ala
NM_001256850.1:c.39110T>C	NP_001243779.1:p.Val13037Ala
NM_001267550.2:c.44033T>C MANE Select	NP_001254479.2:p.Val14678Ala
NM_003319.4:c.16838T>C	NP_003310.4:p.Val5613Ala
NM_133378.4:c.36329T>C	NP_596869.4:p.Val12110Ala
NM_133432.3:c.17213T>C	NP_597676.3:p.Val5738Ala
NM_133437.4:c.17414T>C	NP_597681.4:p.Val5805Ala
XM_011511729.1:c.43130T>C	XP_011510031.1:p.Val14377Ala
XM_011511730.1:c.17024T>C	XP_011510032.1:p.Val5675Ala
XM_011511731.1:c.16883T>C	XP_011510033.1:p.Val5628Ala
XM_017004819.1:c.42926T>C	XP_016860308.1:p.Val14309Ala
XM_017004820.1:c.38324T>C	XP_016860309.1:p.Val12775Ala
XM_017004821.1:c.38321T>C	XP_016860310.1:p.Val12774Ala
XM_017004822.1:c.35363T>C	XP_016860311.1:p.Val11788Ala
XM_017004823.1:c.16979T>C	XP_016860312.1:p.Val5660Ala
XM_024453094.1:c.38474T>C	XP_024308862.1:p.Val12825Ala
XM_024453095.1:c.38471T>C	XP_024308863.1:p.Val12824Ala
XM_024453096.1:c.37904T>C	XP_024308864.1:p.Val12635Ala
XM_024453097.1:c.35246T>C	XP_024308865.1:p.Val11749Ala
XM_024453098.1:c.35165T>C	XP_024308866.1:p.Val11722Ala
XM_024453099.1:c.16928T>C	XP_024308867.1:p.Val5643Ala
XM_024453100.1:c.6782T>C	XP_024308868.1:p.Val2261Ala