Canonical Allele Identifier: CA430247695

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1333554981
• gnomAD v2: 2-179422535-A-C
• gnomAD v4: 2-178557808-A-C
• MyVariant Identifiers: chr2:g.179422535A>C (hg19) ; chr2:g.178557808A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557808A>C , CM000664.2:g.178557808A>C	GRCh38
NC_000002.11:g.179422535A>C , CM000664.1:g.179422535A>C	GRCh37
NC_000002.10:g.179130781A>C	NCBI36
NG_011618.3:g.277995T>G , LRG_391:g.277995T>G
NG_051363.1:g.39982A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79842T>G (TTN)	ENSP00000343764.6:p.Thr26614=
ENST00000342175.11:c.60927T>G (TTN)	ENSP00000340554.6:p.Thr20309=
ENST00000359218.10:c.60726T>G (TTN)	ENSP00000352154.5:p.Thr20242=
ENST00000342175.10:c.60927T>G (TTN)	ENSP00000340554.6:p.Thr20309=
ENST00000342992.10:c.79842T>G (TTN)	ENSP00000343764.6:p.Thr26614=
ENST00000359218.9:c.60726T>G (TTN)	ENSP00000352154.5:p.Thr20242=
ENST00000460472.6:c.60351T>G (TTN)	ENSP00000434586.1:p.Thr20117=
ENST00000589042.5:c.87546T>G (TTN) MANE Select	ENSP00000467141.1:p.Thr29182=
ENST00000591111.5:c.82623T>G (TTN)	ENSP00000465570.1:p.Thr27541=
ENST00000615779.4:c.82623T>G (TTN)	ENSP00000483597.1:p.Thr27541=
NM_001256850.1:c.82623T>G (TTN)	NP_001243779.1:p.Thr27541=
NM_001267550.2:c.87546T>G (TTN) MANE Select	NP_001254479.2:p.Thr29182=
NM_003319.4:c.60351T>G (TTN)	NP_003310.4:p.Thr20117=
NM_133378.4:c.79842T>G (TTN)	NP_596869.4:p.Thr26614=
NM_133432.3:c.60726T>G (TTN)	NP_597676.3:p.Thr20242=
NM_133437.4:c.60927T>G (TTN)	NP_597681.4:p.Thr20309=
NR_038271.1:n.447-13492A>C (TTN-AS1)
NR_038272.1:n.2043+15447A>C (TTN-AS1)
XM_011511729.1:c.86643T>G (TTN)	XP_011510031.1:p.Thr28881=
XM_011511730.1:c.60537T>G (TTN)	XP_011510032.1:p.Thr20179=
XM_011511731.1:c.60396T>G (TTN)	XP_011510033.1:p.Thr20132=
XM_017004819.1:c.86439T>G (TTN)	XP_016860308.1:p.Thr28813=
XM_017004820.1:c.81837T>G (TTN)	XP_016860309.1:p.Thr27279=
XM_017004821.1:c.81834T>G (TTN)	XP_016860310.1:p.Thr27278=
XM_017004822.1:c.78876T>G (TTN)	XP_016860311.1:p.Thr26292=
XM_017004823.1:c.60492T>G (TTN)	XP_016860312.1:p.Thr20164=
XM_024453094.1:c.81987T>G (TTN)	XP_024308862.1:p.Thr27329=
XM_024453095.1:c.81984T>G (TTN)	XP_024308863.1:p.Thr27328=
XM_024453096.1:c.81417T>G (TTN)	XP_024308864.1:p.Thr27139=
XM_024453097.1:c.78759T>G (TTN)	XP_024308865.1:p.Thr26253=
XM_024453098.1:c.78678T>G (TTN)	XP_024308866.1:p.Thr26226=
XM_024453099.1:c.60441T>G (TTN)	XP_024308867.1:p.Thr20147=
XM_024453100.1:c.50295T>G (TTN)	XP_024308868.1:p.Thr16765=