Canonical Allele Identifier: CA349645218

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179494988C>T (hg19) ; chr2:g.178630261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630261C>T , CM000664.2:g.178630261C>T	GRCh38
NC_000002.11:g.179494988C>T , CM000664.1:g.179494988C>T	GRCh37
NC_000002.10:g.179203233C>T	NCBI36
NG_011618.3:g.205542G>A , LRG_391:g.205542G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36557G>A	ENSP00000343764.6:p.Ser12186Asn
ENST00000342175.11:c.17642G>A	ENSP00000340554.6:p.Ser5881Asn
ENST00000359218.10:c.17441G>A	ENSP00000352154.5:p.Ser5814Asn
ENST00000342175.10:c.17642G>A	ENSP00000340554.6:p.Ser5881Asn
ENST00000342992.10:c.36557G>A	ENSP00000343764.6:p.Ser12186Asn
ENST00000359218.9:c.17441G>A	ENSP00000352154.5:p.Ser5814Asn
ENST00000460472.6:c.17066G>A	ENSP00000434586.1:p.Ser5689Asn
ENST00000589042.5:c.44261G>A MANE Select	ENSP00000467141.1:p.Ser14754Asn
ENST00000591111.5:c.39338G>A	ENSP00000465570.1:p.Ser13113Asn
ENST00000615779.4:c.39338G>A	ENSP00000483597.1:p.Ser13113Asn
NM_001256850.1:c.39338G>A	NP_001243779.1:p.Ser13113Asn
NM_001267550.2:c.44261G>A MANE Select	NP_001254479.2:p.Ser14754Asn
NM_003319.4:c.17066G>A	NP_003310.4:p.Ser5689Asn
NM_133378.4:c.36557G>A	NP_596869.4:p.Ser12186Asn
NM_133432.3:c.17441G>A	NP_597676.3:p.Ser5814Asn
NM_133437.4:c.17642G>A	NP_597681.4:p.Ser5881Asn
XM_011511729.1:c.43358G>A	XP_011510031.1:p.Ser14453Asn
XM_011511730.1:c.17252G>A	XP_011510032.1:p.Ser5751Asn
XM_011511731.1:c.17111G>A	XP_011510033.1:p.Ser5704Asn
XM_017004819.1:c.43154G>A	XP_016860308.1:p.Ser14385Asn
XM_017004820.1:c.38552G>A	XP_016860309.1:p.Ser12851Asn
XM_017004821.1:c.38549G>A	XP_016860310.1:p.Ser12850Asn
XM_017004822.1:c.35591G>A	XP_016860311.1:p.Ser11864Asn
XM_017004823.1:c.17207G>A	XP_016860312.1:p.Ser5736Asn
XM_024453094.1:c.38702G>A	XP_024308862.1:p.Ser12901Asn
XM_024453095.1:c.38699G>A	XP_024308863.1:p.Ser12900Asn
XM_024453096.1:c.38132G>A	XP_024308864.1:p.Ser12711Asn
XM_024453097.1:c.35474G>A	XP_024308865.1:p.Ser11825Asn
XM_024453098.1:c.35393G>A	XP_024308866.1:p.Ser11798Asn
XM_024453099.1:c.17156G>A	XP_024308867.1:p.Ser5719Asn
XM_024453100.1:c.7010G>A	XP_024308868.1:p.Ser2337Asn