Canonical Allele Identifier: CA349435972

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449300G>C (hg19) ; chr2:g.178584573G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584573G>C , CM000664.2:g.178584573G>C	GRCh38
NC_000002.11:g.179449300G>C , CM000664.1:g.179449300G>C	GRCh37
NC_000002.10:g.179157546G>C	NCBI36
NG_011618.3:g.251230C>G , LRG_391:g.251230C>G
NG_051363.1:g.66747G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57274C>G (TTN)	ENSP00000343764.6:p.Pro19092Ala
ENST00000342175.11:c.38359C>G (TTN)	ENSP00000340554.6:p.Pro12787Ala
ENST00000359218.10:c.38158C>G (TTN)	ENSP00000352154.5:p.Pro12720Ala
ENST00000342175.10:c.38359C>G (TTN)	ENSP00000340554.6:p.Pro12787Ala
ENST00000342992.10:c.57274C>G (TTN)	ENSP00000343764.6:p.Pro19092Ala
ENST00000359218.9:c.38158C>G (TTN)	ENSP00000352154.5:p.Pro12720Ala
ENST00000460472.6:c.37783C>G (TTN)	ENSP00000434586.1:p.Pro12595Ala
ENST00000589042.5:c.64978C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro21660Ala
ENST00000591111.5:c.60055C>G (TTN)	ENSP00000465570.1:p.Pro20019Ala
ENST00000615779.4:c.60055C>G (TTN)	ENSP00000483597.1:p.Pro20019Ala
NM_001256850.1:c.60055C>G (TTN)	NP_001243779.1:p.Pro20019Ala
NM_001267550.2:c.64978C>G (TTN) MANE Select	NP_001254479.2:p.Pro21660Ala
NM_003319.4:c.37783C>G (TTN)	NP_003310.4:p.Pro12595Ala
NM_133378.4:c.57274C>G (TTN)	NP_596869.4:p.Pro19092Ala
NM_133432.3:c.38158C>G (TTN)	NP_597676.3:p.Pro12720Ala
NM_133437.4:c.38359C>G (TTN)	NP_597681.4:p.Pro12787Ala
NR_038271.1:n.597-13023G>C (TTN-AS1)
NR_038272.1:n.2768G>C (TTN-AS1)
XM_011511729.1:c.64075C>G (TTN)	XP_011510031.1:p.Pro21359Ala
XM_011511730.1:c.37969C>G (TTN)	XP_011510032.1:p.Pro12657Ala
XM_011511731.1:c.37828C>G (TTN)	XP_011510033.1:p.Pro12610Ala
XM_017004819.1:c.63871C>G (TTN)	XP_016860308.1:p.Pro21291Ala
XM_017004820.1:c.59269C>G (TTN)	XP_016860309.1:p.Pro19757Ala
XM_017004821.1:c.59266C>G (TTN)	XP_016860310.1:p.Pro19756Ala
XM_017004822.1:c.56308C>G (TTN)	XP_016860311.1:p.Pro18770Ala
XM_017004823.1:c.37924C>G (TTN)	XP_016860312.1:p.Pro12642Ala
XM_024453094.1:c.59419C>G (TTN)	XP_024308862.1:p.Pro19807Ala
XM_024453095.1:c.59416C>G (TTN)	XP_024308863.1:p.Pro19806Ala
XM_024453096.1:c.58849C>G (TTN)	XP_024308864.1:p.Pro19617Ala
XM_024453097.1:c.56191C>G (TTN)	XP_024308865.1:p.Pro18731Ala
XM_024453098.1:c.56110C>G (TTN)	XP_024308866.1:p.Pro18704Ala
XM_024453099.1:c.37873C>G (TTN)	XP_024308867.1:p.Pro12625Ala
XM_024453100.1:c.27727C>G (TTN)	XP_024308868.1:p.Pro9243Ala