Canonical Allele Identifier: CA430235514

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530601-T-C
• MyVariant Identifiers: chr2:g.179395328T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530601T>C , CM000664.2:g.178530601T>C	GRCh38
NC_000002.11:g.179395328T>C , CM000664.1:g.179395328T>C	GRCh37
NC_000002.10:g.179103574T>C	NCBI36
NG_011618.3:g.305202A>G , LRG_391:g.305202A>G
NG_051363.1:g.12775T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98310A>G (TTN)	ENSP00000343764.6:p.Ala32770=
ENST00000342175.11:c.79395A>G (TTN)	ENSP00000340554.6:p.Ala26465=
ENST00000359218.10:c.79194A>G (TTN)	ENSP00000352154.5:p.Ala26398=
ENST00000342175.10:c.79395A>G (TTN)	ENSP00000340554.6:p.Ala26465=
ENST00000342992.10:c.98310A>G (TTN)	ENSP00000343764.6:p.Ala32770=
ENST00000359218.9:c.79194A>G (TTN)	ENSP00000352154.5:p.Ala26398=
ENST00000460472.6:c.78819A>G (TTN)	ENSP00000434586.1:p.Ala26273=
ENST00000589042.5:c.106014A>G (TTN) MANE Select	ENSP00000467141.1:p.Ala35338=
ENST00000591111.5:c.101091A>G (TTN)	ENSP00000465570.1:p.Ala33697=
ENST00000615779.4:c.101091A>G (TTN)	ENSP00000483597.1:p.Ala33697=
NM_001256850.1:c.101091A>G (TTN)	NP_001243779.1:p.Ala33697=
NM_001267550.2:c.106014A>G (TTN) MANE Select	NP_001254479.2:p.Ala35338=
NM_003319.4:c.78819A>G (TTN)	NP_003310.4:p.Ala26273=
NM_133378.4:c.98310A>G (TTN)	NP_596869.4:p.Ala32770=
NM_133432.3:c.79194A>G (TTN)	NP_597676.3:p.Ala26398=
NM_133437.4:c.79395A>G (TTN)	NP_597681.4:p.Ala26465=
NR_038271.1:n.446+6965T>C (TTN-AS1)
NR_038272.1:n.220-5131T>C (TTN-AS1)
XM_011511729.1:c.105111A>G (TTN)	XP_011510031.1:p.Ala35037=
XM_011511730.1:c.79005A>G (TTN)	XP_011510032.1:p.Ala26335=
XM_011511731.1:c.78864A>G (TTN)	XP_011510033.1:p.Ala26288=
XM_017004819.1:c.104907A>G (TTN)	XP_016860308.1:p.Ala34969=
XM_017004820.1:c.100305A>G (TTN)	XP_016860309.1:p.Ala33435=
XM_017004821.1:c.100302A>G (TTN)	XP_016860310.1:p.Ala33434=
XM_017004822.1:c.97344A>G (TTN)	XP_016860311.1:p.Ala32448=
XM_017004823.1:c.78960A>G (TTN)	XP_016860312.1:p.Ala26320=
XM_024453094.1:c.100455A>G (TTN)	XP_024308862.1:p.Ala33485=
XM_024453095.1:c.100452A>G (TTN)	XP_024308863.1:p.Ala33484=
XM_024453096.1:c.99885A>G (TTN)	XP_024308864.1:p.Ala33295=
XM_024453097.1:c.97227A>G (TTN)	XP_024308865.1:p.Ala32409=
XM_024453098.1:c.97146A>G (TTN)	XP_024308866.1:p.Ala32382=
XM_024453099.1:c.78909A>G (TTN)	XP_024308867.1:p.Ala26303=
XM_024453100.1:c.68763A>G (TTN)	XP_024308868.1:p.Ala22921=