Canonical Allele Identifier: CA349407186

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395312G>C (hg19) ; chr2:g.178530585G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530585G>C , CM000664.2:g.178530585G>C	GRCh38
NC_000002.11:g.179395312G>C , CM000664.1:g.179395312G>C	GRCh37
NC_000002.10:g.179103558G>C	NCBI36
NG_011618.3:g.305218C>G , LRG_391:g.305218C>G
NG_051363.1:g.12759G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98326C>G (TTN)	ENSP00000343764.6:p.Leu32776Val
ENST00000342175.11:c.79411C>G (TTN)	ENSP00000340554.6:p.Leu26471Val
ENST00000359218.10:c.79210C>G (TTN)	ENSP00000352154.5:p.Leu26404Val
ENST00000342175.10:c.79411C>G (TTN)	ENSP00000340554.6:p.Leu26471Val
ENST00000342992.10:c.98326C>G (TTN)	ENSP00000343764.6:p.Leu32776Val
ENST00000359218.9:c.79210C>G (TTN)	ENSP00000352154.5:p.Leu26404Val
ENST00000460472.6:c.78835C>G (TTN)	ENSP00000434586.1:p.Leu26279Val
ENST00000589042.5:c.106030C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu35344Val
ENST00000591111.5:c.101107C>G (TTN)	ENSP00000465570.1:p.Leu33703Val
ENST00000615779.4:c.101107C>G (TTN)	ENSP00000483597.1:p.Leu33703Val
NM_001256850.1:c.101107C>G (TTN)	NP_001243779.1:p.Leu33703Val
NM_001267550.2:c.106030C>G (TTN) MANE Select	NP_001254479.2:p.Leu35344Val
NM_003319.4:c.78835C>G (TTN)	NP_003310.4:p.Leu26279Val
NM_133378.4:c.98326C>G (TTN)	NP_596869.4:p.Leu32776Val
NM_133432.3:c.79210C>G (TTN)	NP_597676.3:p.Leu26404Val
NM_133437.4:c.79411C>G (TTN)	NP_597681.4:p.Leu26471Val
NR_038271.1:n.446+6949G>C (TTN-AS1)
NR_038272.1:n.220-5147G>C (TTN-AS1)
XM_011511729.1:c.105127C>G (TTN)	XP_011510031.1:p.Leu35043Val
XM_011511730.1:c.79021C>G (TTN)	XP_011510032.1:p.Leu26341Val
XM_011511731.1:c.78880C>G (TTN)	XP_011510033.1:p.Leu26294Val
XM_017004819.1:c.104923C>G (TTN)	XP_016860308.1:p.Leu34975Val
XM_017004820.1:c.100321C>G (TTN)	XP_016860309.1:p.Leu33441Val
XM_017004821.1:c.100318C>G (TTN)	XP_016860310.1:p.Leu33440Val
XM_017004822.1:c.97360C>G (TTN)	XP_016860311.1:p.Leu32454Val
XM_017004823.1:c.78976C>G (TTN)	XP_016860312.1:p.Leu26326Val
XM_024453094.1:c.100471C>G (TTN)	XP_024308862.1:p.Leu33491Val
XM_024453095.1:c.100468C>G (TTN)	XP_024308863.1:p.Leu33490Val
XM_024453096.1:c.99901C>G (TTN)	XP_024308864.1:p.Leu33301Val
XM_024453097.1:c.97243C>G (TTN)	XP_024308865.1:p.Leu32415Val
XM_024453098.1:c.97162C>G (TTN)	XP_024308866.1:p.Leu32388Val
XM_024453099.1:c.78925C>G (TTN)	XP_024308867.1:p.Leu26309Val
XM_024453100.1:c.68779C>G (TTN)	XP_024308868.1:p.Leu22927Val