Canonical Allele Identifier: CA349436137

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449417T>C (hg19) ; chr2:g.178584690T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584690T>C , CM000664.2:g.178584690T>C	GRCh38
NC_000002.11:g.179449417T>C , CM000664.1:g.179449417T>C	GRCh37
NC_000002.10:g.179157663T>C	NCBI36
NG_011618.3:g.251113A>G , LRG_391:g.251113A>G
NG_051363.1:g.66864T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57247A>G (TTN)	ENSP00000343764.6:p.Met19083Val
ENST00000342175.11:c.38332A>G (TTN)	ENSP00000340554.6:p.Met12778Val
ENST00000359218.10:c.38131A>G (TTN)	ENSP00000352154.5:p.Met12711Val
ENST00000342175.10:c.38332A>G (TTN)	ENSP00000340554.6:p.Met12778Val
ENST00000342992.10:c.57247A>G (TTN)	ENSP00000343764.6:p.Met19083Val
ENST00000359218.9:c.38131A>G (TTN)	ENSP00000352154.5:p.Met12711Val
ENST00000460472.6:c.37756A>G (TTN)	ENSP00000434586.1:p.Met12586Val
ENST00000589042.5:c.64951A>G (TTN) MANE Select	ENSP00000467141.1:p.Met21651Val
ENST00000591111.5:c.60028A>G (TTN)	ENSP00000465570.1:p.Met20010Val
ENST00000615779.4:c.60028A>G (TTN)	ENSP00000483597.1:p.Met20010Val
NM_001256850.1:c.60028A>G (TTN)	NP_001243779.1:p.Met20010Val
NM_001267550.2:c.64951A>G (TTN) MANE Select	NP_001254479.2:p.Met21651Val
NM_003319.4:c.37756A>G (TTN)	NP_003310.4:p.Met12586Val
NM_133378.4:c.57247A>G (TTN)	NP_596869.4:p.Met19083Val
NM_133432.3:c.38131A>G (TTN)	NP_597676.3:p.Met12711Val
NM_133437.4:c.38332A>G (TTN)	NP_597681.4:p.Met12778Val
NR_038271.1:n.597-12906T>C (TTN-AS1)
NR_038272.1:n.2885T>C (TTN-AS1)
XM_011511729.1:c.64048A>G (TTN)	XP_011510031.1:p.Met21350Val
XM_011511730.1:c.37942A>G (TTN)	XP_011510032.1:p.Met12648Val
XM_011511731.1:c.37801A>G (TTN)	XP_011510033.1:p.Met12601Val
XM_017004819.1:c.63844A>G (TTN)	XP_016860308.1:p.Met21282Val
XM_017004820.1:c.59242A>G (TTN)	XP_016860309.1:p.Met19748Val
XM_017004821.1:c.59239A>G (TTN)	XP_016860310.1:p.Met19747Val
XM_017004822.1:c.56281A>G (TTN)	XP_016860311.1:p.Met18761Val
XM_017004823.1:c.37897A>G (TTN)	XP_016860312.1:p.Met12633Val
XM_024453094.1:c.59392A>G (TTN)	XP_024308862.1:p.Met19798Val
XM_024453095.1:c.59389A>G (TTN)	XP_024308863.1:p.Met19797Val
XM_024453096.1:c.58822A>G (TTN)	XP_024308864.1:p.Met19608Val
XM_024453097.1:c.56164A>G (TTN)	XP_024308865.1:p.Met18722Val
XM_024453098.1:c.56083A>G (TTN)	XP_024308866.1:p.Met18695Val
XM_024453099.1:c.37846A>G (TTN)	XP_024308867.1:p.Met12616Val
XM_024453100.1:c.27700A>G (TTN)	XP_024308868.1:p.Met9234Val