Canonical Allele Identifier: CA349544865

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1348921301
• gnomAD v3: 2-178559833-T-C
• gnomAD v4: 2-178559833-T-C
• MyVariant Identifiers: chr2:g.179424560T>C (hg19) ; chr2:g.178559833T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559833T>C , CM000664.2:g.178559833T>C	GRCh38
NC_000002.11:g.179424560T>C , CM000664.1:g.179424560T>C	GRCh37
NC_000002.10:g.179132806T>C	NCBI36
NG_011618.3:g.275970A>G , LRG_391:g.275970A>G
NG_051363.1:g.42007T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78595A>G (TTN)	ENSP00000343764.6:p.Lys26199Glu
ENST00000342175.11:c.59680A>G (TTN)	ENSP00000340554.6:p.Lys19894Glu
ENST00000359218.10:c.59479A>G (TTN)	ENSP00000352154.5:p.Lys19827Glu
ENST00000342175.10:c.59680A>G (TTN)	ENSP00000340554.6:p.Lys19894Glu
ENST00000342992.10:c.78595A>G (TTN)	ENSP00000343764.6:p.Lys26199Glu
ENST00000359218.9:c.59479A>G (TTN)	ENSP00000352154.5:p.Lys19827Glu
ENST00000460472.6:c.59104A>G (TTN)	ENSP00000434586.1:p.Lys19702Glu
ENST00000589042.5:c.86299A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys28767Glu
ENST00000591111.5:c.81376A>G (TTN)	ENSP00000465570.1:p.Lys27126Glu
ENST00000615779.4:c.81376A>G (TTN)	ENSP00000483597.1:p.Lys27126Glu
NM_001256850.1:c.81376A>G (TTN)	NP_001243779.1:p.Lys27126Glu
NM_001267550.2:c.86299A>G (TTN) MANE Select	NP_001254479.2:p.Lys28767Glu
NM_003319.4:c.59104A>G (TTN)	NP_003310.4:p.Lys19702Glu
NM_133378.4:c.78595A>G (TTN)	NP_596869.4:p.Lys26199Glu
NM_133432.3:c.59479A>G (TTN)	NP_597676.3:p.Lys19827Glu
NM_133437.4:c.59680A>G (TTN)	NP_597681.4:p.Lys19894Glu
NR_038271.1:n.447-11467T>C (TTN-AS1)
NR_038272.1:n.2043+17472T>C (TTN-AS1)
XM_011511729.1:c.85396A>G (TTN)	XP_011510031.1:p.Lys28466Glu
XM_011511730.1:c.59290A>G (TTN)	XP_011510032.1:p.Lys19764Glu
XM_011511731.1:c.59149A>G (TTN)	XP_011510033.1:p.Lys19717Glu
XM_017004819.1:c.85192A>G (TTN)	XP_016860308.1:p.Lys28398Glu
XM_017004820.1:c.80590A>G (TTN)	XP_016860309.1:p.Lys26864Glu
XM_017004821.1:c.80587A>G (TTN)	XP_016860310.1:p.Lys26863Glu
XM_017004822.1:c.77629A>G (TTN)	XP_016860311.1:p.Lys25877Glu
XM_017004823.1:c.59245A>G (TTN)	XP_016860312.1:p.Lys19749Glu
XM_024453094.1:c.80740A>G (TTN)	XP_024308862.1:p.Lys26914Glu
XM_024453095.1:c.80737A>G (TTN)	XP_024308863.1:p.Lys26913Glu
XM_024453096.1:c.80170A>G (TTN)	XP_024308864.1:p.Lys26724Glu
XM_024453097.1:c.77512A>G (TTN)	XP_024308865.1:p.Lys25838Glu
XM_024453098.1:c.77431A>G (TTN)	XP_024308866.1:p.Lys25811Glu
XM_024453099.1:c.59194A>G (TTN)	XP_024308867.1:p.Lys19732Glu
XM_024453100.1:c.49048A>G (TTN)	XP_024308868.1:p.Lys16350Glu