Canonical Allele Identifier: CA349543326

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2154158012
• gnomAD v3: 2-178559638-T-C
• gnomAD v4: 2-178559638-T-C
• MyVariant Identifiers: chr2:g.179424365T>C (hg19) ; chr2:g.178559638T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559638T>C , CM000664.2:g.178559638T>C	GRCh38
NC_000002.11:g.179424365T>C , CM000664.1:g.179424365T>C	GRCh37
NC_000002.10:g.179132611T>C	NCBI36
NG_011618.3:g.276165A>G , LRG_391:g.276165A>G
NG_051363.1:g.41812T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.78790A>G (TTN)	ENSP00000343764.6:p.Ser26264Gly
ENST00000342175.11:c.59875A>G (TTN)	ENSP00000340554.6:p.Ser19959Gly
ENST00000359218.10:c.59674A>G (TTN)	ENSP00000352154.5:p.Ser19892Gly
ENST00000342175.10:c.59875A>G (TTN)	ENSP00000340554.6:p.Ser19959Gly
ENST00000342992.10:c.78790A>G (TTN)	ENSP00000343764.6:p.Ser26264Gly
ENST00000359218.9:c.59674A>G (TTN)	ENSP00000352154.5:p.Ser19892Gly
ENST00000460472.6:c.59299A>G (TTN)	ENSP00000434586.1:p.Ser19767Gly
ENST00000589042.5:c.86494A>G (TTN) MANE Select	ENSP00000467141.1:p.Ser28832Gly
ENST00000591111.5:c.81571A>G (TTN)	ENSP00000465570.1:p.Ser27191Gly
ENST00000615779.4:c.81571A>G (TTN)	ENSP00000483597.1:p.Ser27191Gly
NM_001256850.1:c.81571A>G (TTN)	NP_001243779.1:p.Ser27191Gly
NM_001267550.2:c.86494A>G (TTN) MANE Select	NP_001254479.2:p.Ser28832Gly
NM_003319.4:c.59299A>G (TTN)	NP_003310.4:p.Ser19767Gly
NM_133378.4:c.78790A>G (TTN)	NP_596869.4:p.Ser26264Gly
NM_133432.3:c.59674A>G (TTN)	NP_597676.3:p.Ser19892Gly
NM_133437.4:c.59875A>G (TTN)	NP_597681.4:p.Ser19959Gly
NR_038271.1:n.447-11662T>C (TTN-AS1)
NR_038272.1:n.2043+17277T>C (TTN-AS1)
XM_011511729.1:c.85591A>G (TTN)	XP_011510031.1:p.Ser28531Gly
XM_011511730.1:c.59485A>G (TTN)	XP_011510032.1:p.Ser19829Gly
XM_011511731.1:c.59344A>G (TTN)	XP_011510033.1:p.Ser19782Gly
XM_017004819.1:c.85387A>G (TTN)	XP_016860308.1:p.Ser28463Gly
XM_017004820.1:c.80785A>G (TTN)	XP_016860309.1:p.Ser26929Gly
XM_017004821.1:c.80782A>G (TTN)	XP_016860310.1:p.Ser26928Gly
XM_017004822.1:c.77824A>G (TTN)	XP_016860311.1:p.Ser25942Gly
XM_017004823.1:c.59440A>G (TTN)	XP_016860312.1:p.Ser19814Gly
XM_024453094.1:c.80935A>G (TTN)	XP_024308862.1:p.Ser26979Gly
XM_024453095.1:c.80932A>G (TTN)	XP_024308863.1:p.Ser26978Gly
XM_024453096.1:c.80365A>G (TTN)	XP_024308864.1:p.Ser26789Gly
XM_024453097.1:c.77707A>G (TTN)	XP_024308865.1:p.Ser25903Gly
XM_024453098.1:c.77626A>G (TTN)	XP_024308866.1:p.Ser25876Gly
XM_024453099.1:c.59389A>G (TTN)	XP_024308867.1:p.Ser19797Gly
XM_024453100.1:c.49243A>G (TTN)	XP_024308868.1:p.Ser16415Gly