Canonical Allele Identifier: CA349541212

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179466276G>C (hg19) ; chr2:g.178601549G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601549G>C , CM000664.2:g.178601549G>C	GRCh38
NC_000002.11:g.179466276G>C , CM000664.1:g.179466276G>C	GRCh37
NC_000002.10:g.179174521G>C	NCBI36
NG_011618.3:g.234254C>G , LRG_391:g.234254C>G
NG_051363.1:g.83723G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47744C>G (TTN)	ENSP00000343764.6:p.Pro15915Arg
ENST00000342175.11:c.28829C>G (TTN)	ENSP00000340554.6:p.Pro9610Arg
ENST00000359218.10:c.28628C>G (TTN)	ENSP00000352154.5:p.Pro9543Arg
ENST00000342175.10:c.28829C>G (TTN)	ENSP00000340554.6:p.Pro9610Arg
ENST00000342992.10:c.47744C>G (TTN)	ENSP00000343764.6:p.Pro15915Arg
ENST00000359218.9:c.28628C>G (TTN)	ENSP00000352154.5:p.Pro9543Arg
ENST00000460472.6:c.28253C>G (TTN)	ENSP00000434586.1:p.Pro9418Arg
ENST00000589042.5:c.55448C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro18483Arg
ENST00000591111.5:c.50525C>G (TTN)	ENSP00000465570.1:p.Pro16842Arg
ENST00000615779.4:c.50525C>G (TTN)	ENSP00000483597.1:p.Pro16842Arg
NM_001256850.1:c.50525C>G (TTN)	NP_001243779.1:p.Pro16842Arg
NM_001267550.2:c.55448C>G (TTN) MANE Select	NP_001254479.2:p.Pro18483Arg
NM_003319.4:c.28253C>G (TTN)	NP_003310.4:p.Pro9418Arg
NM_133378.4:c.47744C>G (TTN)	NP_596869.4:p.Pro15915Arg
NM_133432.3:c.28628C>G (TTN)	NP_597676.3:p.Pro9543Arg
NM_133437.4:c.28829C>G (TTN)	NP_597681.4:p.Pro9610Arg
NR_038271.1:n.682+3868G>C (TTN-AS1)
NR_038272.1:n.3917+882G>C (TTN-AS1)
XM_011511729.1:c.54545C>G (TTN)	XP_011510031.1:p.Pro18182Arg
XM_011511730.1:c.28439C>G (TTN)	XP_011510032.1:p.Pro9480Arg
XM_011511731.1:c.28298C>G (TTN)	XP_011510033.1:p.Pro9433Arg
XM_017004819.1:c.54341C>G (TTN)	XP_016860308.1:p.Pro18114Arg
XM_017004820.1:c.49739C>G (TTN)	XP_016860309.1:p.Pro16580Arg
XM_017004821.1:c.49736C>G (TTN)	XP_016860310.1:p.Pro16579Arg
XM_017004822.1:c.46778C>G (TTN)	XP_016860311.1:p.Pro15593Arg
XM_017004823.1:c.28394C>G (TTN)	XP_016860312.1:p.Pro9465Arg
XM_024453094.1:c.49889C>G (TTN)	XP_024308862.1:p.Pro16630Arg
XM_024453095.1:c.49886C>G (TTN)	XP_024308863.1:p.Pro16629Arg
XM_024453096.1:c.49319C>G (TTN)	XP_024308864.1:p.Pro16440Arg
XM_024453097.1:c.46661C>G (TTN)	XP_024308865.1:p.Pro15554Arg
XM_024453098.1:c.46580C>G (TTN)	XP_024308866.1:p.Pro15527Arg
XM_024453099.1:c.28343C>G (TTN)	XP_024308867.1:p.Pro9448Arg
XM_024453100.1:c.18197C>G (TTN)	XP_024308868.1:p.Pro6066Arg