Canonical Allele Identifier: CA349405240

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394775C>A (hg19) ; chr2:g.178530048C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530048C>A , CM000664.2:g.178530048C>A	GRCh38
NC_000002.11:g.179394775C>A , CM000664.1:g.179394775C>A	GRCh37
NC_000002.10:g.179103021C>A	NCBI36
NG_011618.3:g.305755G>T , LRG_391:g.305755G>T
NG_051363.1:g.12222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98739G>T (TTN)	ENSP00000343764.6:p.Lys32913Asn
ENST00000342175.11:c.79824G>T (TTN)	ENSP00000340554.6:p.Lys26608Asn
ENST00000359218.10:c.79623G>T (TTN)	ENSP00000352154.5:p.Lys26541Asn
ENST00000342175.10:c.79824G>T (TTN)	ENSP00000340554.6:p.Lys26608Asn
ENST00000342992.10:c.98739G>T (TTN)	ENSP00000343764.6:p.Lys32913Asn
ENST00000359218.9:c.79623G>T (TTN)	ENSP00000352154.5:p.Lys26541Asn
ENST00000460472.6:c.79248G>T (TTN)	ENSP00000434586.1:p.Lys26416Asn
ENST00000589042.5:c.106443G>T (TTN) MANE Select	ENSP00000467141.1:p.Lys35481Asn
ENST00000591111.5:c.101520G>T (TTN)	ENSP00000465570.1:p.Lys33840Asn
ENST00000615779.4:c.101520G>T (TTN)	ENSP00000483597.1:p.Lys33840Asn
NM_001256850.1:c.101520G>T (TTN)	NP_001243779.1:p.Lys33840Asn
NM_001267550.2:c.106443G>T (TTN) MANE Select	NP_001254479.2:p.Lys35481Asn
NM_003319.4:c.79248G>T (TTN)	NP_003310.4:p.Lys26416Asn
NM_133378.4:c.98739G>T (TTN)	NP_596869.4:p.Lys32913Asn
NM_133432.3:c.79623G>T (TTN)	NP_597676.3:p.Lys26541Asn
NM_133437.4:c.79824G>T (TTN)	NP_597681.4:p.Lys26608Asn
NR_038271.1:n.446+6412C>A (TTN-AS1)
NR_038272.1:n.220-5684C>A (TTN-AS1)
XM_011511729.1:c.105540G>T (TTN)	XP_011510031.1:p.Lys35180Asn
XM_011511730.1:c.79434G>T (TTN)	XP_011510032.1:p.Lys26478Asn
XM_011511731.1:c.79293G>T (TTN)	XP_011510033.1:p.Lys26431Asn
XM_017004819.1:c.105336G>T (TTN)	XP_016860308.1:p.Lys35112Asn
XM_017004820.1:c.100734G>T (TTN)	XP_016860309.1:p.Lys33578Asn
XM_017004821.1:c.100731G>T (TTN)	XP_016860310.1:p.Lys33577Asn
XM_017004822.1:c.97773G>T (TTN)	XP_016860311.1:p.Lys32591Asn
XM_017004823.1:c.79389G>T (TTN)	XP_016860312.1:p.Lys26463Asn
XM_024453094.1:c.100884G>T (TTN)	XP_024308862.1:p.Lys33628Asn
XM_024453095.1:c.100881G>T (TTN)	XP_024308863.1:p.Lys33627Asn
XM_024453096.1:c.100314G>T (TTN)	XP_024308864.1:p.Lys33438Asn
XM_024453097.1:c.97656G>T (TTN)	XP_024308865.1:p.Lys32552Asn
XM_024453098.1:c.97575G>T (TTN)	XP_024308866.1:p.Lys32525Asn
XM_024453099.1:c.79338G>T (TTN)	XP_024308867.1:p.Lys26446Asn
XM_024453100.1:c.69192G>T (TTN)	XP_024308868.1:p.Lys23064Asn