Canonical Allele Identifier: CA349435485

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449212C>T (hg19) ; chr2:g.178584485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584485C>T , CM000664.2:g.178584485C>T	GRCh38
NC_000002.11:g.179449212C>T , CM000664.1:g.179449212C>T	GRCh37
NC_000002.10:g.179157458C>T	NCBI36
NG_011618.3:g.251318G>A , LRG_391:g.251318G>A
NG_051363.1:g.66659C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57362G>A (TTN)	ENSP00000343764.6:p.Ser19121Asn
ENST00000342175.11:c.38447G>A (TTN)	ENSP00000340554.6:p.Ser12816Asn
ENST00000359218.10:c.38246G>A (TTN)	ENSP00000352154.5:p.Ser12749Asn
ENST00000342175.10:c.38447G>A (TTN)	ENSP00000340554.6:p.Ser12816Asn
ENST00000342992.10:c.57362G>A (TTN)	ENSP00000343764.6:p.Ser19121Asn
ENST00000359218.9:c.38246G>A (TTN)	ENSP00000352154.5:p.Ser12749Asn
ENST00000460472.6:c.37871G>A (TTN)	ENSP00000434586.1:p.Ser12624Asn
ENST00000589042.5:c.65066G>A (TTN) MANE Select	ENSP00000467141.1:p.Ser21689Asn
ENST00000591111.5:c.60143G>A (TTN)	ENSP00000465570.1:p.Ser20048Asn
ENST00000615779.4:c.60143G>A (TTN)	ENSP00000483597.1:p.Ser20048Asn
NM_001256850.1:c.60143G>A (TTN)	NP_001243779.1:p.Ser20048Asn
NM_001267550.2:c.65066G>A (TTN) MANE Select	NP_001254479.2:p.Ser21689Asn
NM_003319.4:c.37871G>A (TTN)	NP_003310.4:p.Ser12624Asn
NM_133378.4:c.57362G>A (TTN)	NP_596869.4:p.Ser19121Asn
NM_133432.3:c.38246G>A (TTN)	NP_597676.3:p.Ser12749Asn
NM_133437.4:c.38447G>A (TTN)	NP_597681.4:p.Ser12816Asn
NR_038271.1:n.596+13036C>T (TTN-AS1)
NR_038272.1:n.2768-88C>T (TTN-AS1)
XM_011511729.1:c.64163G>A (TTN)	XP_011510031.1:p.Ser21388Asn
XM_011511730.1:c.38057G>A (TTN)	XP_011510032.1:p.Ser12686Asn
XM_011511731.1:c.37916G>A (TTN)	XP_011510033.1:p.Ser12639Asn
XM_017004819.1:c.63959G>A (TTN)	XP_016860308.1:p.Ser21320Asn
XM_017004820.1:c.59357G>A (TTN)	XP_016860309.1:p.Ser19786Asn
XM_017004821.1:c.59354G>A (TTN)	XP_016860310.1:p.Ser19785Asn
XM_017004822.1:c.56396G>A (TTN)	XP_016860311.1:p.Ser18799Asn
XM_017004823.1:c.38012G>A (TTN)	XP_016860312.1:p.Ser12671Asn
XM_024453094.1:c.59507G>A (TTN)	XP_024308862.1:p.Ser19836Asn
XM_024453095.1:c.59504G>A (TTN)	XP_024308863.1:p.Ser19835Asn
XM_024453096.1:c.58937G>A (TTN)	XP_024308864.1:p.Ser19646Asn
XM_024453097.1:c.56279G>A (TTN)	XP_024308865.1:p.Ser18760Asn
XM_024453098.1:c.56198G>A (TTN)	XP_024308866.1:p.Ser18733Asn
XM_024453099.1:c.37961G>A (TTN)	XP_024308867.1:p.Ser12654Asn
XM_024453100.1:c.27815G>A (TTN)	XP_024308868.1:p.Ser9272Asn