Canonical Allele Identifier: CA349470180

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1697282371
• gnomAD v3: 2-178546624-G-A
• gnomAD v4: 2-178546624-G-A
• MyVariant Identifiers: chr2:g.179411351G>A (hg19) ; chr2:g.178546624G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546624G>A , CM000664.2:g.178546624G>A	GRCh38
NC_000002.11:g.179411351G>A , CM000664.1:g.179411351G>A	GRCh37
NC_000002.10:g.179119597G>A	NCBI36
NG_011618.3:g.289179C>T , LRG_391:g.289179C>T
NG_051363.1:g.28798G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87100C>T (TTN)	ENSP00000343764.6:p.Pro29034Ser
ENST00000342175.11:c.68185C>T (TTN)	ENSP00000340554.6:p.Pro22729Ser
ENST00000359218.10:c.67984C>T (TTN)	ENSP00000352154.5:p.Pro22662Ser
ENST00000342175.10:c.68185C>T (TTN)	ENSP00000340554.6:p.Pro22729Ser
ENST00000342992.10:c.87100C>T (TTN)	ENSP00000343764.6:p.Pro29034Ser
ENST00000359218.9:c.67984C>T (TTN)	ENSP00000352154.5:p.Pro22662Ser
ENST00000460472.6:c.67609C>T (TTN)	ENSP00000434586.1:p.Pro22537Ser
ENST00000589042.5:c.94804C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro31602Ser
ENST00000591111.5:c.89881C>T (TTN)	ENSP00000465570.1:p.Pro29961Ser
ENST00000615779.4:c.89881C>T (TTN)	ENSP00000483597.1:p.Pro29961Ser
NM_001256850.1:c.89881C>T (TTN)	NP_001243779.1:p.Pro29961Ser
NM_001267550.2:c.94804C>T (TTN) MANE Select	NP_001254479.2:p.Pro31602Ser
NM_003319.4:c.67609C>T (TTN)	NP_003310.4:p.Pro22537Ser
NM_133378.4:c.87100C>T (TTN)	NP_596869.4:p.Pro29034Ser
NM_133432.3:c.67984C>T (TTN)	NP_597676.3:p.Pro22662Ser
NM_133437.4:c.68185C>T (TTN)	NP_597681.4:p.Pro22729Ser
NR_038271.1:n.446+22988G>A (TTN-AS1)
NR_038272.1:n.2043+4263G>A (TTN-AS1)
XM_011511729.1:c.93901C>T (TTN)	XP_011510031.1:p.Pro31301Ser
XM_011511730.1:c.67795C>T (TTN)	XP_011510032.1:p.Pro22599Ser
XM_011511731.1:c.67654C>T (TTN)	XP_011510033.1:p.Pro22552Ser
XM_017004819.1:c.93697C>T (TTN)	XP_016860308.1:p.Pro31233Ser
XM_017004820.1:c.89095C>T (TTN)	XP_016860309.1:p.Pro29699Ser
XM_017004821.1:c.89092C>T (TTN)	XP_016860310.1:p.Pro29698Ser
XM_017004822.1:c.86134C>T (TTN)	XP_016860311.1:p.Pro28712Ser
XM_017004823.1:c.67750C>T (TTN)	XP_016860312.1:p.Pro22584Ser
XM_024453094.1:c.89245C>T (TTN)	XP_024308862.1:p.Pro29749Ser
XM_024453095.1:c.89242C>T (TTN)	XP_024308863.1:p.Pro29748Ser
XM_024453096.1:c.88675C>T (TTN)	XP_024308864.1:p.Pro29559Ser
XM_024453097.1:c.86017C>T (TTN)	XP_024308865.1:p.Pro28673Ser
XM_024453098.1:c.85936C>T (TTN)	XP_024308866.1:p.Pro28646Ser
XM_024453099.1:c.67699C>T (TTN)	XP_024308867.1:p.Pro22567Ser
XM_024453100.1:c.57553C>T (TTN)	XP_024308868.1:p.Pro19185Ser