Canonical Allele Identifier: CA349411857

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1445632421
• gnomAD v2: 2-179396959-T-G
• gnomAD v4: 2-178532232-T-G
• MyVariant Identifiers: chr2:g.179396959T>G (hg19) ; chr2:g.178532232T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532232T>G , CM000664.2:g.178532232T>G	GRCh38
NC_000002.11:g.179396959T>G , CM000664.1:g.179396959T>G	GRCh37
NC_000002.10:g.179105205T>G	NCBI36
NG_011618.3:g.303571A>C , LRG_391:g.303571A>C
NG_051363.1:g.14406T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96679A>C (TTN)	ENSP00000343764.6:p.Lys32227Gln
ENST00000342175.11:c.77764A>C (TTN)	ENSP00000340554.6:p.Lys25922Gln
ENST00000359218.10:c.77563A>C (TTN)	ENSP00000352154.5:p.Lys25855Gln
ENST00000342175.10:c.77764A>C (TTN)	ENSP00000340554.6:p.Lys25922Gln
ENST00000342992.10:c.96679A>C (TTN)	ENSP00000343764.6:p.Lys32227Gln
ENST00000359218.9:c.77563A>C (TTN)	ENSP00000352154.5:p.Lys25855Gln
ENST00000460472.6:c.77188A>C (TTN)	ENSP00000434586.1:p.Lys25730Gln
ENST00000589042.5:c.104383A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys34795Gln
ENST00000591111.5:c.99460A>C (TTN)	ENSP00000465570.1:p.Lys33154Gln
ENST00000615779.4:c.99460A>C (TTN)	ENSP00000483597.1:p.Lys33154Gln
NM_001256850.1:c.99460A>C (TTN)	NP_001243779.1:p.Lys33154Gln
NM_001267550.2:c.104383A>C (TTN) MANE Select	NP_001254479.2:p.Lys34795Gln
NM_003319.4:c.77188A>C (TTN)	NP_003310.4:p.Lys25730Gln
NM_133378.4:c.96679A>C (TTN)	NP_596869.4:p.Lys32227Gln
NM_133432.3:c.77563A>C (TTN)	NP_597676.3:p.Lys25855Gln
NM_133437.4:c.77764A>C (TTN)	NP_597681.4:p.Lys25922Gln
NR_038271.1:n.446+8596T>G (TTN-AS1)
NR_038272.1:n.220-3500T>G (TTN-AS1)
XM_011511729.1:c.103480A>C (TTN)	XP_011510031.1:p.Lys34494Gln
XM_011511730.1:c.77374A>C (TTN)	XP_011510032.1:p.Lys25792Gln
XM_011511731.1:c.77233A>C (TTN)	XP_011510033.1:p.Lys25745Gln
XM_017004819.1:c.103276A>C (TTN)	XP_016860308.1:p.Lys34426Gln
XM_017004820.1:c.98674A>C (TTN)	XP_016860309.1:p.Lys32892Gln
XM_017004821.1:c.98671A>C (TTN)	XP_016860310.1:p.Lys32891Gln
XM_017004822.1:c.95713A>C (TTN)	XP_016860311.1:p.Lys31905Gln
XM_017004823.1:c.77329A>C (TTN)	XP_016860312.1:p.Lys25777Gln
XM_024453094.1:c.98824A>C (TTN)	XP_024308862.1:p.Lys32942Gln
XM_024453095.1:c.98821A>C (TTN)	XP_024308863.1:p.Lys32941Gln
XM_024453096.1:c.98254A>C (TTN)	XP_024308864.1:p.Lys32752Gln
XM_024453097.1:c.95596A>C (TTN)	XP_024308865.1:p.Lys31866Gln
XM_024453098.1:c.95515A>C (TTN)	XP_024308866.1:p.Lys31839Gln
XM_024453099.1:c.77278A>C (TTN)	XP_024308867.1:p.Lys25760Gln
XM_024453100.1:c.67132A>C (TTN)	XP_024308868.1:p.Lys22378Gln