Canonical Allele Identifier: CA349406981

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1333218021
• gnomAD v2: 2-179395218-A-C
• MyVariant Identifiers: chr2:g.179395218A>C (hg19) ; chr2:g.178530491A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530491A>C , CM000664.2:g.178530491A>C	GRCh38
NC_000002.11:g.179395218A>C , CM000664.1:g.179395218A>C	GRCh37
NC_000002.10:g.179103464A>C	NCBI36
NG_011618.3:g.305312T>G , LRG_391:g.305312T>G
NG_051363.1:g.12665A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98420T>G (TTN)	ENSP00000343764.6:p.Met32807Arg
ENST00000342175.11:c.79505T>G (TTN)	ENSP00000340554.6:p.Met26502Arg
ENST00000359218.10:c.79304T>G (TTN)	ENSP00000352154.5:p.Met26435Arg
ENST00000342175.10:c.79505T>G (TTN)	ENSP00000340554.6:p.Met26502Arg
ENST00000342992.10:c.98420T>G (TTN)	ENSP00000343764.6:p.Met32807Arg
ENST00000359218.9:c.79304T>G (TTN)	ENSP00000352154.5:p.Met26435Arg
ENST00000460472.6:c.78929T>G (TTN)	ENSP00000434586.1:p.Met26310Arg
ENST00000589042.5:c.106124T>G (TTN) MANE Select	ENSP00000467141.1:p.Met35375Arg
ENST00000591111.5:c.101201T>G (TTN)	ENSP00000465570.1:p.Met33734Arg
ENST00000615779.4:c.101201T>G (TTN)	ENSP00000483597.1:p.Met33734Arg
NM_001256850.1:c.101201T>G (TTN)	NP_001243779.1:p.Met33734Arg
NM_001267550.2:c.106124T>G (TTN) MANE Select	NP_001254479.2:p.Met35375Arg
NM_003319.4:c.78929T>G (TTN)	NP_003310.4:p.Met26310Arg
NM_133378.4:c.98420T>G (TTN)	NP_596869.4:p.Met32807Arg
NM_133432.3:c.79304T>G (TTN)	NP_597676.3:p.Met26435Arg
NM_133437.4:c.79505T>G (TTN)	NP_597681.4:p.Met26502Arg
NR_038271.1:n.446+6855A>C (TTN-AS1)
NR_038272.1:n.220-5241A>C (TTN-AS1)
XM_011511729.1:c.105221T>G (TTN)	XP_011510031.1:p.Met35074Arg
XM_011511730.1:c.79115T>G (TTN)	XP_011510032.1:p.Met26372Arg
XM_011511731.1:c.78974T>G (TTN)	XP_011510033.1:p.Met26325Arg
XM_017004819.1:c.105017T>G (TTN)	XP_016860308.1:p.Met35006Arg
XM_017004820.1:c.100415T>G (TTN)	XP_016860309.1:p.Met33472Arg
XM_017004821.1:c.100412T>G (TTN)	XP_016860310.1:p.Met33471Arg
XM_017004822.1:c.97454T>G (TTN)	XP_016860311.1:p.Met32485Arg
XM_017004823.1:c.79070T>G (TTN)	XP_016860312.1:p.Met26357Arg
XM_024453094.1:c.100565T>G (TTN)	XP_024308862.1:p.Met33522Arg
XM_024453095.1:c.100562T>G (TTN)	XP_024308863.1:p.Met33521Arg
XM_024453096.1:c.99995T>G (TTN)	XP_024308864.1:p.Met33332Arg
XM_024453097.1:c.97337T>G (TTN)	XP_024308865.1:p.Met32446Arg
XM_024453098.1:c.97256T>G (TTN)	XP_024308866.1:p.Met32419Arg
XM_024453099.1:c.79019T>G (TTN)	XP_024308867.1:p.Met26340Arg
XM_024453100.1:c.68873T>G (TTN)	XP_024308868.1:p.Met22958Arg