Canonical Allele Identifier: CA430235776

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396771C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532044C>G , CM000664.2:g.178532044C>G	GRCh38
NC_000002.11:g.179396771C>G , CM000664.1:g.179396771C>G	GRCh37
NC_000002.10:g.179105017C>G	NCBI36
NG_011618.3:g.303759G>C , LRG_391:g.303759G>C
NG_051363.1:g.14218C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96867G>C (TTN)	ENSP00000343764.6:p.Leu32289=
ENST00000342175.11:c.77952G>C (TTN)	ENSP00000340554.6:p.Leu25984=
ENST00000359218.10:c.77751G>C (TTN)	ENSP00000352154.5:p.Leu25917=
ENST00000342175.10:c.77952G>C (TTN)	ENSP00000340554.6:p.Leu25984=
ENST00000342992.10:c.96867G>C (TTN)	ENSP00000343764.6:p.Leu32289=
ENST00000359218.9:c.77751G>C (TTN)	ENSP00000352154.5:p.Leu25917=
ENST00000460472.6:c.77376G>C (TTN)	ENSP00000434586.1:p.Leu25792=
ENST00000589042.5:c.104571G>C (TTN) MANE Select	ENSP00000467141.1:p.Leu34857=
ENST00000591111.5:c.99648G>C (TTN)	ENSP00000465570.1:p.Leu33216=
ENST00000615779.4:c.99648G>C (TTN)	ENSP00000483597.1:p.Leu33216=
NM_001256850.1:c.99648G>C (TTN)	NP_001243779.1:p.Leu33216=
NM_001267550.2:c.104571G>C (TTN) MANE Select	NP_001254479.2:p.Leu34857=
NM_003319.4:c.77376G>C (TTN)	NP_003310.4:p.Leu25792=
NM_133378.4:c.96867G>C (TTN)	NP_596869.4:p.Leu32289=
NM_133432.3:c.77751G>C (TTN)	NP_597676.3:p.Leu25917=
NM_133437.4:c.77952G>C (TTN)	NP_597681.4:p.Leu25984=
NR_038271.1:n.446+8408C>G (TTN-AS1)
NR_038272.1:n.220-3688C>G (TTN-AS1)
XM_011511729.1:c.103668G>C (TTN)	XP_011510031.1:p.Leu34556=
XM_011511730.1:c.77562G>C (TTN)	XP_011510032.1:p.Leu25854=
XM_011511731.1:c.77421G>C (TTN)	XP_011510033.1:p.Leu25807=
XM_017004819.1:c.103464G>C (TTN)	XP_016860308.1:p.Leu34488=
XM_017004820.1:c.98862G>C (TTN)	XP_016860309.1:p.Leu32954=
XM_017004821.1:c.98859G>C (TTN)	XP_016860310.1:p.Leu32953=
XM_017004822.1:c.95901G>C (TTN)	XP_016860311.1:p.Leu31967=
XM_017004823.1:c.77517G>C (TTN)	XP_016860312.1:p.Leu25839=
XM_024453094.1:c.99012G>C (TTN)	XP_024308862.1:p.Leu33004=
XM_024453095.1:c.99009G>C (TTN)	XP_024308863.1:p.Leu33003=
XM_024453096.1:c.98442G>C (TTN)	XP_024308864.1:p.Leu32814=
XM_024453097.1:c.95784G>C (TTN)	XP_024308865.1:p.Leu31928=
XM_024453098.1:c.95703G>C (TTN)	XP_024308866.1:p.Leu31901=
XM_024453099.1:c.77466G>C (TTN)	XP_024308867.1:p.Leu25822=
XM_024453100.1:c.67320G>C (TTN)	XP_024308868.1:p.Leu22440=