Canonical Allele Identifier: CA60985268

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs748757133
• MyVariant Identifiers: chr2:g.179426812G>C (hg19) ; chr2:g.178562085G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562085G>C , CM000664.2:g.178562085G>C	GRCh38
NC_000002.11:g.179426812G>C , CM000664.1:g.179426812G>C	GRCh37
NC_000002.10:g.179135058G>C	NCBI36
NG_011618.3:g.273718C>G , LRG_391:g.273718C>G
NG_051363.1:g.44259G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.76343C>G (TTN)	ENSP00000343764.6:p.Thr25448Ser
ENST00000342175.11:c.57428C>G (TTN)	ENSP00000340554.6:p.Thr19143Ser
ENST00000359218.10:c.57227C>G (TTN)	ENSP00000352154.5:p.Thr19076Ser
ENST00000342175.10:c.57428C>G (TTN)	ENSP00000340554.6:p.Thr19143Ser
ENST00000342992.10:c.76343C>G (TTN)	ENSP00000343764.6:p.Thr25448Ser
ENST00000359218.9:c.57227C>G (TTN)	ENSP00000352154.5:p.Thr19076Ser
ENST00000460472.6:c.56852C>G (TTN)	ENSP00000434586.1:p.Thr18951Ser
ENST00000589042.5:c.84047C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr28016Ser
ENST00000591111.5:c.79124C>G (TTN)	ENSP00000465570.1:p.Thr26375Ser
ENST00000615779.4:c.79124C>G (TTN)	ENSP00000483597.1:p.Thr26375Ser
NM_001256850.1:c.79124C>G (TTN)	NP_001243779.1:p.Thr26375Ser
NM_001267550.2:c.84047C>G (TTN) MANE Select	NP_001254479.2:p.Thr28016Ser
NM_003319.4:c.56852C>G (TTN)	NP_003310.4:p.Thr18951Ser
NM_133378.4:c.76343C>G (TTN)	NP_596869.4:p.Thr25448Ser
NM_133432.3:c.57227C>G (TTN)	NP_597676.3:p.Thr19076Ser
NM_133437.4:c.57428C>G (TTN)	NP_597681.4:p.Thr19143Ser
NR_038271.1:n.447-9215G>C (TTN-AS1)
NR_038272.1:n.2043+19724G>C (TTN-AS1)
XM_011511729.1:c.83144C>G (TTN)	XP_011510031.1:p.Thr27715Ser
XM_011511730.1:c.57038C>G (TTN)	XP_011510032.1:p.Thr19013Ser
XM_011511731.1:c.56897C>G (TTN)	XP_011510033.1:p.Thr18966Ser
XM_017004819.1:c.82940C>G (TTN)	XP_016860308.1:p.Thr27647Ser
XM_017004820.1:c.78338C>G (TTN)	XP_016860309.1:p.Thr26113Ser
XM_017004821.1:c.78335C>G (TTN)	XP_016860310.1:p.Thr26112Ser
XM_017004822.1:c.75377C>G (TTN)	XP_016860311.1:p.Thr25126Ser
XM_017004823.1:c.56993C>G (TTN)	XP_016860312.1:p.Thr18998Ser
XM_024453094.1:c.78488C>G (TTN)	XP_024308862.1:p.Thr26163Ser
XM_024453095.1:c.78485C>G (TTN)	XP_024308863.1:p.Thr26162Ser
XM_024453096.1:c.77918C>G (TTN)	XP_024308864.1:p.Thr25973Ser
XM_024453097.1:c.75260C>G (TTN)	XP_024308865.1:p.Thr25087Ser
XM_024453098.1:c.75179C>G (TTN)	XP_024308866.1:p.Thr25060Ser
XM_024453099.1:c.56942C>G (TTN)	XP_024308867.1:p.Thr18981Ser
XM_024453100.1:c.46796C>G (TTN)	XP_024308868.1:p.Thr15599Ser