Canonical Allele Identifier: CA349407149

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2021348
• ClinVar RCV Id: RCV002862585
• MyVariant Identifiers: chr2:g.179395296A>G (hg19) ; chr2:g.178530569A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530569A>G , CM000664.2:g.178530569A>G	GRCh38
NC_000002.11:g.179395296A>G , CM000664.1:g.179395296A>G	GRCh37
NC_000002.10:g.179103542A>G	NCBI36
NG_011618.3:g.305234T>C , LRG_391:g.305234T>C
NG_051363.1:g.12743A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98342T>C (TTN)	ENSP00000343764.6:p.Leu32781Pro
ENST00000342175.11:c.79427T>C (TTN)	ENSP00000340554.6:p.Leu26476Pro
ENST00000359218.10:c.79226T>C (TTN)	ENSP00000352154.5:p.Leu26409Pro
ENST00000342175.10:c.79427T>C (TTN)	ENSP00000340554.6:p.Leu26476Pro
ENST00000342992.10:c.98342T>C (TTN)	ENSP00000343764.6:p.Leu32781Pro
ENST00000359218.9:c.79226T>C (TTN)	ENSP00000352154.5:p.Leu26409Pro
ENST00000460472.6:c.78851T>C (TTN)	ENSP00000434586.1:p.Leu26284Pro
ENST00000589042.5:c.106046T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu35349Pro
ENST00000591111.5:c.101123T>C (TTN)	ENSP00000465570.1:p.Leu33708Pro
ENST00000615779.4:c.101123T>C (TTN)	ENSP00000483597.1:p.Leu33708Pro
NM_001256850.1:c.101123T>C (TTN)	NP_001243779.1:p.Leu33708Pro
NM_001267550.2:c.106046T>C (TTN) MANE Select	NP_001254479.2:p.Leu35349Pro
NM_003319.4:c.78851T>C (TTN)	NP_003310.4:p.Leu26284Pro
NM_133378.4:c.98342T>C (TTN)	NP_596869.4:p.Leu32781Pro
NM_133432.3:c.79226T>C (TTN)	NP_597676.3:p.Leu26409Pro
NM_133437.4:c.79427T>C (TTN)	NP_597681.4:p.Leu26476Pro
NR_038271.1:n.446+6933A>G (TTN-AS1)
NR_038272.1:n.220-5163A>G (TTN-AS1)
XM_011511729.1:c.105143T>C (TTN)	XP_011510031.1:p.Leu35048Pro
XM_011511730.1:c.79037T>C (TTN)	XP_011510032.1:p.Leu26346Pro
XM_011511731.1:c.78896T>C (TTN)	XP_011510033.1:p.Leu26299Pro
XM_017004819.1:c.104939T>C (TTN)	XP_016860308.1:p.Leu34980Pro
XM_017004820.1:c.100337T>C (TTN)	XP_016860309.1:p.Leu33446Pro
XM_017004821.1:c.100334T>C (TTN)	XP_016860310.1:p.Leu33445Pro
XM_017004822.1:c.97376T>C (TTN)	XP_016860311.1:p.Leu32459Pro
XM_017004823.1:c.78992T>C (TTN)	XP_016860312.1:p.Leu26331Pro
XM_024453094.1:c.100487T>C (TTN)	XP_024308862.1:p.Leu33496Pro
XM_024453095.1:c.100484T>C (TTN)	XP_024308863.1:p.Leu33495Pro
XM_024453096.1:c.99917T>C (TTN)	XP_024308864.1:p.Leu33306Pro
XM_024453097.1:c.97259T>C (TTN)	XP_024308865.1:p.Leu32420Pro
XM_024453098.1:c.97178T>C (TTN)	XP_024308866.1:p.Leu32393Pro
XM_024453099.1:c.78941T>C (TTN)	XP_024308867.1:p.Leu26314Pro
XM_024453100.1:c.68795T>C (TTN)	XP_024308868.1:p.Leu22932Pro