Canonical Allele Identifier: CA538435347

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1169730404
• gnomAD v2: 2-179441220-C-G
• gnomAD v4: 2-178576493-C-G
• MyVariant Identifiers: chr2:g.179441220C>G (hg19) ; chr2:g.178576493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576493C>G , CM000664.2:g.178576493C>G	GRCh38
NC_000002.11:g.179441220C>G , CM000664.1:g.179441220C>G	GRCh37
NC_000002.10:g.179149466C>G	NCBI36
NG_011618.3:g.259310G>C , LRG_391:g.259310G>C
NG_051363.1:g.58667C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.62011+36G>C (TTN)	ENSP00000343764.6:n.62011+36G>C
ENST00000342175.11:c.43096+36G>C (TTN)	ENSP00000340554.6:n.43096+36G>C
ENST00000359218.10:c.42895+36G>C (TTN)	ENSP00000352154.5:n.42895+36G>C
ENST00000342175.10:c.43096+36G>C (TTN)	ENSP00000340554.6:n.43096+36G>C
ENST00000342992.10:c.62011+36G>C (TTN)	ENSP00000343764.6:n.62011+36G>C
ENST00000359218.9:c.42895+36G>C (TTN)	ENSP00000352154.5:n.42895+36G>C
ENST00000460472.6:c.42520+36G>C (TTN)	ENSP00000434586.1:n.42520+36G>C
ENST00000589042.5:c.69715+36G>C (TTN) MANE Select	ENSP00000467141.1:n.69715+36G>C
ENST00000591111.5:c.64792+36G>C (TTN)	ENSP00000465570.1:n.64792+36G>C
ENST00000615779.4:c.64792+36G>C (TTN)	ENSP00000483597.1:n.64792+36G>C
NM_001256850.1:c.64792+36G>C (TTN)	NP_001243779.1:n.64792+36G>C
NM_001267550.2:c.69715+36G>C (TTN) MANE Select	NP_001254479.2:n.69715+36G>C
NM_003319.4:c.42520+36G>C (TTN)	NP_003310.4:n.42520+36G>C
NM_133378.4:c.62011+36G>C (TTN)	NP_596869.4:n.62011+36G>C
NM_133432.3:c.42895+36G>C (TTN)	NP_597676.3:n.42895+36G>C
NM_133437.4:c.43096+36G>C (TTN)	NP_597681.4:n.43096+36G>C
NR_038271.1:n.596+5044C>G (TTN-AS1)
NR_038272.1:n.2044-6079C>G (TTN-AS1)
XM_011511729.1:c.68812+36G>C (TTN)	XP_011510031.1:n.68812+36G>C
XM_011511730.1:c.42706+36G>C (TTN)	XP_011510032.1:n.42706+36G>C
XM_011511731.1:c.42565+36G>C (TTN)	XP_011510033.1:n.42565+36G>C
XM_017004819.1:c.68608+36G>C (TTN)	XP_016860308.1:n.68608+36G>C
XM_017004820.1:c.64006+36G>C (TTN)	XP_016860309.1:n.64006+36G>C
XM_017004821.1:c.64003+36G>C (TTN)	XP_016860310.1:n.64003+36G>C
XM_017004822.1:c.61045+36G>C (TTN)	XP_016860311.1:n.61045+36G>C
XM_017004823.1:c.42661+36G>C (TTN)	XP_016860312.1:n.42661+36G>C
XM_024453094.1:c.64156+36G>C (TTN)	XP_024308862.1:n.64156+36G>C
XM_024453095.1:c.64153+36G>C (TTN)	XP_024308863.1:n.64153+36G>C
XM_024453096.1:c.63586+36G>C (TTN)	XP_024308864.1:n.63586+36G>C
XM_024453097.1:c.60928+36G>C (TTN)	XP_024308865.1:n.60928+36G>C
XM_024453098.1:c.60847+36G>C (TTN)	XP_024308866.1:n.60847+36G>C
XM_024453099.1:c.42610+36G>C (TTN)	XP_024308867.1:n.42610+36G>C
XM_024453100.1:c.32464+36G>C (TTN)	XP_024308868.1:n.32464+36G>C