Canonical Allele Identifier: CA430271034

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 515284
• ClinVar RCV Id: RCV000609030 ; RCV000728770 ; RCV002431811 ; RCV002531633
• dbSNP Id: rs1553687219
• gnomAD v4: 2-178607867-G-A
• MyVariant Identifiers: chr2:g.179472594G>A (hg19) ; chr2:g.178607867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178607867G>A , CM000664.2:g.178607867G>A	GRCh38
NC_000002.11:g.179472594G>A , CM000664.1:g.179472594G>A	GRCh37
NC_000002.10:g.179180839G>A	NCBI36
NG_011618.3:g.227936C>T , LRG_391:g.227936C>T
NG_051363.1:g.90041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.45216C>T (TTN)	ENSP00000343764.6:p.Tyr15072=
ENST00000342175.11:c.26301C>T (TTN)	ENSP00000340554.6:p.Tyr8767=
ENST00000359218.10:c.26100C>T (TTN)	ENSP00000352154.5:p.Tyr8700=
ENST00000342175.10:c.26301C>T (TTN)	ENSP00000340554.6:p.Tyr8767=
ENST00000342992.10:c.45216C>T (TTN)	ENSP00000343764.6:p.Tyr15072=
ENST00000359218.9:c.26100C>T (TTN)	ENSP00000352154.5:p.Tyr8700=
ENST00000460472.6:c.25725C>T (TTN)	ENSP00000434586.1:p.Tyr8575=
ENST00000589042.5:c.52920C>T (TTN) MANE Select	ENSP00000467141.1:p.Tyr17640=
ENST00000591111.5:c.47997C>T (TTN)	ENSP00000465570.1:p.Tyr15999=
ENST00000615779.4:c.47997C>T (TTN)	ENSP00000483597.1:p.Tyr15999=
NM_001256850.1:c.47997C>T (TTN)	NP_001243779.1:p.Tyr15999=
NM_001267550.2:c.52920C>T (TTN) MANE Select	NP_001254479.2:p.Tyr17640=
NM_003319.4:c.25725C>T (TTN)	NP_003310.4:p.Tyr8575=
NM_133378.4:c.45216C>T (TTN)	NP_596869.4:p.Tyr15072=
NM_133432.3:c.26100C>T (TTN)	NP_597676.3:p.Tyr8700=
NM_133437.4:c.26301C>T (TTN)	NP_597681.4:p.Tyr8767=
NR_038271.1:n.683-300G>A (TTN-AS1)
XM_011511729.1:c.52017C>T (TTN)	XP_011510031.1:p.Tyr17339=
XM_011511730.1:c.25911C>T (TTN)	XP_011510032.1:p.Tyr8637=
XM_011511731.1:c.25770C>T (TTN)	XP_011510033.1:p.Tyr8590=
XM_017004819.1:c.51813C>T (TTN)	XP_016860308.1:p.Tyr17271=
XM_017004820.1:c.47211C>T (TTN)	XP_016860309.1:p.Tyr15737=
XM_017004821.1:c.47208C>T (TTN)	XP_016860310.1:p.Tyr15736=
XM_017004822.1:c.44250C>T (TTN)	XP_016860311.1:p.Tyr14750=
XM_017004823.1:c.25866C>T (TTN)	XP_016860312.1:p.Tyr8622=
XM_024453094.1:c.47361C>T (TTN)	XP_024308862.1:p.Tyr15787=
XM_024453095.1:c.47358C>T (TTN)	XP_024308863.1:p.Tyr15786=
XM_024453096.1:c.46791C>T (TTN)	XP_024308864.1:p.Tyr15597=
XM_024453097.1:c.44133C>T (TTN)	XP_024308865.1:p.Tyr14711=
XM_024453098.1:c.44052C>T (TTN)	XP_024308866.1:p.Tyr14684=
XM_024453099.1:c.25815C>T (TTN)	XP_024308867.1:p.Tyr8605=
XM_024453100.1:c.15669C>T (TTN)	XP_024308868.1:p.Tyr5223=