Canonical Allele Identifier: CA349435484

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2048496866
• MyVariant Identifiers: chr2:g.179449212C>G (hg19) ; chr2:g.178584485C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57362G>C (TTN)	ENSP00000343764.6:p.Ser19121Thr
ENST00000342175.11:c.38447G>C (TTN)	ENSP00000340554.6:p.Ser12816Thr
ENST00000359218.10:c.38246G>C (TTN)	ENSP00000352154.5:p.Ser12749Thr
ENST00000342175.10:c.38447G>C (TTN)	ENSP00000340554.6:p.Ser12816Thr
ENST00000342992.10:c.57362G>C (TTN)	ENSP00000343764.6:p.Ser19121Thr
ENST00000359218.9:c.38246G>C (TTN)	ENSP00000352154.5:p.Ser12749Thr
ENST00000460472.6:c.37871G>C (TTN)	ENSP00000434586.1:p.Ser12624Thr
ENST00000589042.5:c.65066G>C (TTN) MANE Select	ENSP00000467141.1:p.Ser21689Thr
ENST00000591111.5:c.60143G>C (TTN)	ENSP00000465570.1:p.Ser20048Thr
ENST00000615779.4:c.60143G>C (TTN)	ENSP00000483597.1:p.Ser20048Thr
NM_001256850.1:c.60143G>C (TTN)	NP_001243779.1:p.Ser20048Thr
NM_001267550.2:c.65066G>C (TTN) MANE Select	NP_001254479.2:p.Ser21689Thr
NM_003319.4:c.37871G>C (TTN)	NP_003310.4:p.Ser12624Thr
NM_133378.4:c.57362G>C (TTN)	NP_596869.4:p.Ser19121Thr
NM_133432.3:c.38246G>C (TTN)	NP_597676.3:p.Ser12749Thr
NM_133437.4:c.38447G>C (TTN)	NP_597681.4:p.Ser12816Thr
NR_038271.1:n.596+13036C>G (TTN-AS1)
NR_038272.1:n.2768-88C>G (TTN-AS1)
XM_011511729.1:c.64163G>C (TTN)	XP_011510031.1:p.Ser21388Thr
XM_011511730.1:c.38057G>C (TTN)	XP_011510032.1:p.Ser12686Thr
XM_011511731.1:c.37916G>C (TTN)	XP_011510033.1:p.Ser12639Thr
XM_017004819.1:c.63959G>C (TTN)	XP_016860308.1:p.Ser21320Thr
XM_017004820.1:c.59357G>C (TTN)	XP_016860309.1:p.Ser19786Thr
XM_017004821.1:c.59354G>C (TTN)	XP_016860310.1:p.Ser19785Thr
XM_017004822.1:c.56396G>C (TTN)	XP_016860311.1:p.Ser18799Thr
XM_017004823.1:c.38012G>C (TTN)	XP_016860312.1:p.Ser12671Thr
XM_024453094.1:c.59507G>C (TTN)	XP_024308862.1:p.Ser19836Thr
XM_024453095.1:c.59504G>C (TTN)	XP_024308863.1:p.Ser19835Thr
XM_024453096.1:c.58937G>C (TTN)	XP_024308864.1:p.Ser19646Thr
XM_024453097.1:c.56279G>C (TTN)	XP_024308865.1:p.Ser18760Thr
XM_024453098.1:c.56198G>C (TTN)	XP_024308866.1:p.Ser18733Thr
XM_024453099.1:c.37961G>C (TTN)	XP_024308867.1:p.Ser12654Thr
XM_024453100.1:c.27815G>C (TTN)	XP_024308868.1:p.Ser9272Thr