Canonical Allele Identifier: CA349551969

Gene: TTN TTN-AS1

Linked Data

• gnomAD v3: 2-178560525-G-C
• gnomAD v4: 2-178560525-G-C
• MyVariant Identifiers: chr2:g.179425252G>C (hg19) ; chr2:g.178560525G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178560525G>C , CM000664.2:g.178560525G>C	GRCh38
NC_000002.11:g.179425252G>C , CM000664.1:g.179425252G>C	GRCh37
NC_000002.10:g.179133498G>C	NCBI36
NG_011618.3:g.275278C>G , LRG_391:g.275278C>G
NG_051363.1:g.42699G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.77903C>G (TTN)	ENSP00000343764.6:p.Pro25968Arg
ENST00000342175.11:c.58988C>G (TTN)	ENSP00000340554.6:p.Pro19663Arg
ENST00000359218.10:c.58787C>G (TTN)	ENSP00000352154.5:p.Pro19596Arg
ENST00000342175.10:c.58988C>G (TTN)	ENSP00000340554.6:p.Pro19663Arg
ENST00000342992.10:c.77903C>G (TTN)	ENSP00000343764.6:p.Pro25968Arg
ENST00000359218.9:c.58787C>G (TTN)	ENSP00000352154.5:p.Pro19596Arg
ENST00000460472.6:c.58412C>G (TTN)	ENSP00000434586.1:p.Pro19471Arg
ENST00000589042.5:c.85607C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro28536Arg
ENST00000591111.5:c.80684C>G (TTN)	ENSP00000465570.1:p.Pro26895Arg
ENST00000615779.4:c.80684C>G (TTN)	ENSP00000483597.1:p.Pro26895Arg
NM_001256850.1:c.80684C>G (TTN)	NP_001243779.1:p.Pro26895Arg
NM_001267550.2:c.85607C>G (TTN) MANE Select	NP_001254479.2:p.Pro28536Arg
NM_003319.4:c.58412C>G (TTN)	NP_003310.4:p.Pro19471Arg
NM_133378.4:c.77903C>G (TTN)	NP_596869.4:p.Pro25968Arg
NM_133432.3:c.58787C>G (TTN)	NP_597676.3:p.Pro19596Arg
NM_133437.4:c.58988C>G (TTN)	NP_597681.4:p.Pro19663Arg
NR_038271.1:n.447-10775G>C (TTN-AS1)
NR_038272.1:n.2043+18164G>C (TTN-AS1)
XM_011511729.1:c.84704C>G (TTN)	XP_011510031.1:p.Pro28235Arg
XM_011511730.1:c.58598C>G (TTN)	XP_011510032.1:p.Pro19533Arg
XM_011511731.1:c.58457C>G (TTN)	XP_011510033.1:p.Pro19486Arg
XM_017004819.1:c.84500C>G (TTN)	XP_016860308.1:p.Pro28167Arg
XM_017004820.1:c.79898C>G (TTN)	XP_016860309.1:p.Pro26633Arg
XM_017004821.1:c.79895C>G (TTN)	XP_016860310.1:p.Pro26632Arg
XM_017004822.1:c.76937C>G (TTN)	XP_016860311.1:p.Pro25646Arg
XM_017004823.1:c.58553C>G (TTN)	XP_016860312.1:p.Pro19518Arg
XM_024453094.1:c.80048C>G (TTN)	XP_024308862.1:p.Pro26683Arg
XM_024453095.1:c.80045C>G (TTN)	XP_024308863.1:p.Pro26682Arg
XM_024453096.1:c.79478C>G (TTN)	XP_024308864.1:p.Pro26493Arg
XM_024453097.1:c.76820C>G (TTN)	XP_024308865.1:p.Pro25607Arg
XM_024453098.1:c.76739C>G (TTN)	XP_024308866.1:p.Pro25580Arg
XM_024453099.1:c.58502C>G (TTN)	XP_024308867.1:p.Pro19501Arg
XM_024453100.1:c.48356C>G (TTN)	XP_024308868.1:p.Pro16119Arg