Canonical Allele Identifier: CA349411553

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1689397500
• gnomAD v4: 2-178532120-G-C
• MyVariant Identifiers: chr2:g.179396847G>C (hg19) ; chr2:g.178532120G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532120G>C , CM000664.2:g.178532120G>C	GRCh38
NC_000002.11:g.179396847G>C , CM000664.1:g.179396847G>C	GRCh37
NC_000002.10:g.179105093G>C	NCBI36
NG_011618.3:g.303683C>G , LRG_391:g.303683C>G
NG_051363.1:g.14294G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96791C>G (TTN)	ENSP00000343764.6:p.Ser32264Cys
ENST00000342175.11:c.77876C>G (TTN)	ENSP00000340554.6:p.Ser25959Cys
ENST00000359218.10:c.77675C>G (TTN)	ENSP00000352154.5:p.Ser25892Cys
ENST00000342175.10:c.77876C>G (TTN)	ENSP00000340554.6:p.Ser25959Cys
ENST00000342992.10:c.96791C>G (TTN)	ENSP00000343764.6:p.Ser32264Cys
ENST00000359218.9:c.77675C>G (TTN)	ENSP00000352154.5:p.Ser25892Cys
ENST00000460472.6:c.77300C>G (TTN)	ENSP00000434586.1:p.Ser25767Cys
ENST00000589042.5:c.104495C>G (TTN) MANE Select	ENSP00000467141.1:p.Ser34832Cys
ENST00000591111.5:c.99572C>G (TTN)	ENSP00000465570.1:p.Ser33191Cys
ENST00000615779.4:c.99572C>G (TTN)	ENSP00000483597.1:p.Ser33191Cys
NM_001256850.1:c.99572C>G (TTN)	NP_001243779.1:p.Ser33191Cys
NM_001267550.2:c.104495C>G (TTN) MANE Select	NP_001254479.2:p.Ser34832Cys
NM_003319.4:c.77300C>G (TTN)	NP_003310.4:p.Ser25767Cys
NM_133378.4:c.96791C>G (TTN)	NP_596869.4:p.Ser32264Cys
NM_133432.3:c.77675C>G (TTN)	NP_597676.3:p.Ser25892Cys
NM_133437.4:c.77876C>G (TTN)	NP_597681.4:p.Ser25959Cys
NR_038271.1:n.446+8484G>C (TTN-AS1)
NR_038272.1:n.220-3612G>C (TTN-AS1)
XM_011511729.1:c.103592C>G (TTN)	XP_011510031.1:p.Ser34531Cys
XM_011511730.1:c.77486C>G (TTN)	XP_011510032.1:p.Ser25829Cys
XM_011511731.1:c.77345C>G (TTN)	XP_011510033.1:p.Ser25782Cys
XM_017004819.1:c.103388C>G (TTN)	XP_016860308.1:p.Ser34463Cys
XM_017004820.1:c.98786C>G (TTN)	XP_016860309.1:p.Ser32929Cys
XM_017004821.1:c.98783C>G (TTN)	XP_016860310.1:p.Ser32928Cys
XM_017004822.1:c.95825C>G (TTN)	XP_016860311.1:p.Ser31942Cys
XM_017004823.1:c.77441C>G (TTN)	XP_016860312.1:p.Ser25814Cys
XM_024453094.1:c.98936C>G (TTN)	XP_024308862.1:p.Ser32979Cys
XM_024453095.1:c.98933C>G (TTN)	XP_024308863.1:p.Ser32978Cys
XM_024453096.1:c.98366C>G (TTN)	XP_024308864.1:p.Ser32789Cys
XM_024453097.1:c.95708C>G (TTN)	XP_024308865.1:p.Ser31903Cys
XM_024453098.1:c.95627C>G (TTN)	XP_024308866.1:p.Ser31876Cys
XM_024453099.1:c.77390C>G (TTN)	XP_024308867.1:p.Ser25797Cys
XM_024453100.1:c.67244C>G (TTN)	XP_024308868.1:p.Ser22415Cys