Canonical Allele Identifier: CA349436108

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2048548013
• gnomAD v3: 2-178584684-C-G
• gnomAD v4: 2-178584684-C-G
• MyVariant Identifiers: chr2:g.179449411C>G (hg19) ; chr2:g.178584684C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584684C>G , CM000664.2:g.178584684C>G	GRCh38
NC_000002.11:g.179449411C>G , CM000664.1:g.179449411C>G	GRCh37
NC_000002.10:g.179157657C>G	NCBI36
NG_011618.3:g.251119G>C , LRG_391:g.251119G>C
NG_051363.1:g.66858C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57253G>C (TTN)	ENSP00000343764.6:p.Ala19085Pro
ENST00000342175.11:c.38338G>C (TTN)	ENSP00000340554.6:p.Ala12780Pro
ENST00000359218.10:c.38137G>C (TTN)	ENSP00000352154.5:p.Ala12713Pro
ENST00000342175.10:c.38338G>C (TTN)	ENSP00000340554.6:p.Ala12780Pro
ENST00000342992.10:c.57253G>C (TTN)	ENSP00000343764.6:p.Ala19085Pro
ENST00000359218.9:c.38137G>C (TTN)	ENSP00000352154.5:p.Ala12713Pro
ENST00000460472.6:c.37762G>C (TTN)	ENSP00000434586.1:p.Ala12588Pro
ENST00000589042.5:c.64957G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala21653Pro
ENST00000591111.5:c.60034G>C (TTN)	ENSP00000465570.1:p.Ala20012Pro
ENST00000615779.4:c.60034G>C (TTN)	ENSP00000483597.1:p.Ala20012Pro
NM_001256850.1:c.60034G>C (TTN)	NP_001243779.1:p.Ala20012Pro
NM_001267550.2:c.64957G>C (TTN) MANE Select	NP_001254479.2:p.Ala21653Pro
NM_003319.4:c.37762G>C (TTN)	NP_003310.4:p.Ala12588Pro
NM_133378.4:c.57253G>C (TTN)	NP_596869.4:p.Ala19085Pro
NM_133432.3:c.38137G>C (TTN)	NP_597676.3:p.Ala12713Pro
NM_133437.4:c.38338G>C (TTN)	NP_597681.4:p.Ala12780Pro
NR_038271.1:n.597-12912C>G (TTN-AS1)
NR_038272.1:n.2879C>G (TTN-AS1)
XM_011511729.1:c.64054G>C (TTN)	XP_011510031.1:p.Ala21352Pro
XM_011511730.1:c.37948G>C (TTN)	XP_011510032.1:p.Ala12650Pro
XM_011511731.1:c.37807G>C (TTN)	XP_011510033.1:p.Ala12603Pro
XM_017004819.1:c.63850G>C (TTN)	XP_016860308.1:p.Ala21284Pro
XM_017004820.1:c.59248G>C (TTN)	XP_016860309.1:p.Ala19750Pro
XM_017004821.1:c.59245G>C (TTN)	XP_016860310.1:p.Ala19749Pro
XM_017004822.1:c.56287G>C (TTN)	XP_016860311.1:p.Ala18763Pro
XM_017004823.1:c.37903G>C (TTN)	XP_016860312.1:p.Ala12635Pro
XM_024453094.1:c.59398G>C (TTN)	XP_024308862.1:p.Ala19800Pro
XM_024453095.1:c.59395G>C (TTN)	XP_024308863.1:p.Ala19799Pro
XM_024453096.1:c.58828G>C (TTN)	XP_024308864.1:p.Ala19610Pro
XM_024453097.1:c.56170G>C (TTN)	XP_024308865.1:p.Ala18724Pro
XM_024453098.1:c.56089G>C (TTN)	XP_024308866.1:p.Ala18697Pro
XM_024453099.1:c.37852G>C (TTN)	XP_024308867.1:p.Ala12618Pro
XM_024453100.1:c.27706G>C (TTN)	XP_024308868.1:p.Ala9236Pro