Canonical Allele Identifier: CA349424992

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400795A>C (hg19) ; chr2:g.178536068A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536068A>C , CM000664.2:g.178536068A>C	GRCh38
NC_000002.11:g.179400795A>C , CM000664.1:g.179400795A>C	GRCh37
NC_000002.10:g.179109041A>C	NCBI36
NG_011618.3:g.299735T>G , LRG_391:g.299735T>G
NG_051363.1:g.18242A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92975T>G (TTN)	ENSP00000343764.6:p.Val30992Gly
ENST00000342175.11:c.74060T>G (TTN)	ENSP00000340554.6:p.Val24687Gly
ENST00000359218.10:c.73859T>G (TTN)	ENSP00000352154.5:p.Val24620Gly
ENST00000342175.10:c.74060T>G (TTN)	ENSP00000340554.6:p.Val24687Gly
ENST00000342992.10:c.92975T>G (TTN)	ENSP00000343764.6:p.Val30992Gly
ENST00000359218.9:c.73859T>G (TTN)	ENSP00000352154.5:p.Val24620Gly
ENST00000460472.6:c.73484T>G (TTN)	ENSP00000434586.1:p.Val24495Gly
ENST00000589042.5:c.100679T>G (TTN) MANE Select	ENSP00000467141.1:p.Val33560Gly
ENST00000591111.5:c.95756T>G (TTN)	ENSP00000465570.1:p.Val31919Gly
ENST00000615779.4:c.95756T>G (TTN)	ENSP00000483597.1:p.Val31919Gly
NM_001256850.1:c.95756T>G (TTN)	NP_001243779.1:p.Val31919Gly
NM_001267550.2:c.100679T>G (TTN) MANE Select	NP_001254479.2:p.Val33560Gly
NM_003319.4:c.73484T>G (TTN)	NP_003310.4:p.Val24495Gly
NM_133378.4:c.92975T>G (TTN)	NP_596869.4:p.Val30992Gly
NM_133432.3:c.73859T>G (TTN)	NP_597676.3:p.Val24620Gly
NM_133437.4:c.74060T>G (TTN)	NP_597681.4:p.Val24687Gly
NR_038271.1:n.446+12432A>C (TTN-AS1)
NR_038272.1:n.316+240A>C (TTN-AS1)
XM_011511729.1:c.99776T>G (TTN)	XP_011510031.1:p.Val33259Gly
XM_011511730.1:c.73670T>G (TTN)	XP_011510032.1:p.Val24557Gly
XM_011511731.1:c.73529T>G (TTN)	XP_011510033.1:p.Val24510Gly
XM_017004819.1:c.99572T>G (TTN)	XP_016860308.1:p.Val33191Gly
XM_017004820.1:c.94970T>G (TTN)	XP_016860309.1:p.Val31657Gly
XM_017004821.1:c.94967T>G (TTN)	XP_016860310.1:p.Val31656Gly
XM_017004822.1:c.92009T>G (TTN)	XP_016860311.1:p.Val30670Gly
XM_017004823.1:c.73625T>G (TTN)	XP_016860312.1:p.Val24542Gly
XM_024453094.1:c.95120T>G (TTN)	XP_024308862.1:p.Val31707Gly
XM_024453095.1:c.95117T>G (TTN)	XP_024308863.1:p.Val31706Gly
XM_024453096.1:c.94550T>G (TTN)	XP_024308864.1:p.Val31517Gly
XM_024453097.1:c.91892T>G (TTN)	XP_024308865.1:p.Val30631Gly
XM_024453098.1:c.91811T>G (TTN)	XP_024308866.1:p.Val30604Gly
XM_024453099.1:c.73574T>G (TTN)	XP_024308867.1:p.Val24525Gly
XM_024453100.1:c.63428T>G (TTN)	XP_024308868.1:p.Val21143Gly