Canonical Allele Identifier: CA349407244

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395339G>T (hg19) ; chr2:g.178530612G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530612G>T , CM000664.2:g.178530612G>T	GRCh38
NC_000002.11:g.179395339G>T , CM000664.1:g.179395339G>T	GRCh37
NC_000002.10:g.179103585G>T	NCBI36
NG_011618.3:g.305191C>A , LRG_391:g.305191C>A
NG_051363.1:g.12786G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98299C>A (TTN)	ENSP00000343764.6:p.His32767Asn
ENST00000342175.11:c.79384C>A (TTN)	ENSP00000340554.6:p.His26462Asn
ENST00000359218.10:c.79183C>A (TTN)	ENSP00000352154.5:p.His26395Asn
ENST00000342175.10:c.79384C>A (TTN)	ENSP00000340554.6:p.His26462Asn
ENST00000342992.10:c.98299C>A (TTN)	ENSP00000343764.6:p.His32767Asn
ENST00000359218.9:c.79183C>A (TTN)	ENSP00000352154.5:p.His26395Asn
ENST00000460472.6:c.78808C>A (TTN)	ENSP00000434586.1:p.His26270Asn
ENST00000589042.5:c.106003C>A (TTN) MANE Select	ENSP00000467141.1:p.His35335Asn
ENST00000591111.5:c.101080C>A (TTN)	ENSP00000465570.1:p.His33694Asn
ENST00000615779.4:c.101080C>A (TTN)	ENSP00000483597.1:p.His33694Asn
NM_001256850.1:c.101080C>A (TTN)	NP_001243779.1:p.His33694Asn
NM_001267550.2:c.106003C>A (TTN) MANE Select	NP_001254479.2:p.His35335Asn
NM_003319.4:c.78808C>A (TTN)	NP_003310.4:p.His26270Asn
NM_133378.4:c.98299C>A (TTN)	NP_596869.4:p.His32767Asn
NM_133432.3:c.79183C>A (TTN)	NP_597676.3:p.His26395Asn
NM_133437.4:c.79384C>A (TTN)	NP_597681.4:p.His26462Asn
NR_038271.1:n.446+6976G>T (TTN-AS1)
NR_038272.1:n.220-5120G>T (TTN-AS1)
XM_011511729.1:c.105100C>A (TTN)	XP_011510031.1:p.His35034Asn
XM_011511730.1:c.78994C>A (TTN)	XP_011510032.1:p.His26332Asn
XM_011511731.1:c.78853C>A (TTN)	XP_011510033.1:p.His26285Asn
XM_017004819.1:c.104896C>A (TTN)	XP_016860308.1:p.His34966Asn
XM_017004820.1:c.100294C>A (TTN)	XP_016860309.1:p.His33432Asn
XM_017004821.1:c.100291C>A (TTN)	XP_016860310.1:p.His33431Asn
XM_017004822.1:c.97333C>A (TTN)	XP_016860311.1:p.His32445Asn
XM_017004823.1:c.78949C>A (TTN)	XP_016860312.1:p.His26317Asn
XM_024453094.1:c.100444C>A (TTN)	XP_024308862.1:p.His33482Asn
XM_024453095.1:c.100441C>A (TTN)	XP_024308863.1:p.His33481Asn
XM_024453096.1:c.99874C>A (TTN)	XP_024308864.1:p.His33292Asn
XM_024453097.1:c.97216C>A (TTN)	XP_024308865.1:p.His32406Asn
XM_024453098.1:c.97135C>A (TTN)	XP_024308866.1:p.His32379Asn
XM_024453099.1:c.78898C>A (TTN)	XP_024308867.1:p.His26300Asn
XM_024453100.1:c.68752C>A (TTN)	XP_024308868.1:p.His22918Asn