Canonical Allele Identifier: CA349405453

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530080-C-T
• MyVariant Identifiers: chr2:g.179394807C>T (hg19) ; chr2:g.178530080C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530080C>T , CM000664.2:g.178530080C>T	GRCh38
NC_000002.11:g.179394807C>T , CM000664.1:g.179394807C>T	GRCh37
NC_000002.10:g.179103053C>T	NCBI36
NG_011618.3:g.305723G>A , LRG_391:g.305723G>A
NG_051363.1:g.12254C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98707G>A (TTN)	ENSP00000343764.6:p.Asp32903Asn
ENST00000342175.11:c.79792G>A (TTN)	ENSP00000340554.6:p.Asp26598Asn
ENST00000359218.10:c.79591G>A (TTN)	ENSP00000352154.5:p.Asp26531Asn
ENST00000342175.10:c.79792G>A (TTN)	ENSP00000340554.6:p.Asp26598Asn
ENST00000342992.10:c.98707G>A (TTN)	ENSP00000343764.6:p.Asp32903Asn
ENST00000359218.9:c.79591G>A (TTN)	ENSP00000352154.5:p.Asp26531Asn
ENST00000460472.6:c.79216G>A (TTN)	ENSP00000434586.1:p.Asp26406Asn
ENST00000589042.5:c.106411G>A (TTN) MANE Select	ENSP00000467141.1:p.Asp35471Asn
ENST00000591111.5:c.101488G>A (TTN)	ENSP00000465570.1:p.Asp33830Asn
ENST00000615779.4:c.101488G>A (TTN)	ENSP00000483597.1:p.Asp33830Asn
NM_001256850.1:c.101488G>A (TTN)	NP_001243779.1:p.Asp33830Asn
NM_001267550.2:c.106411G>A (TTN) MANE Select	NP_001254479.2:p.Asp35471Asn
NM_003319.4:c.79216G>A (TTN)	NP_003310.4:p.Asp26406Asn
NM_133378.4:c.98707G>A (TTN)	NP_596869.4:p.Asp32903Asn
NM_133432.3:c.79591G>A (TTN)	NP_597676.3:p.Asp26531Asn
NM_133437.4:c.79792G>A (TTN)	NP_597681.4:p.Asp26598Asn
NR_038271.1:n.446+6444C>T (TTN-AS1)
NR_038272.1:n.220-5652C>T (TTN-AS1)
XM_011511729.1:c.105508G>A (TTN)	XP_011510031.1:p.Asp35170Asn
XM_011511730.1:c.79402G>A (TTN)	XP_011510032.1:p.Asp26468Asn
XM_011511731.1:c.79261G>A (TTN)	XP_011510033.1:p.Asp26421Asn
XM_017004819.1:c.105304G>A (TTN)	XP_016860308.1:p.Asp35102Asn
XM_017004820.1:c.100702G>A (TTN)	XP_016860309.1:p.Asp33568Asn
XM_017004821.1:c.100699G>A (TTN)	XP_016860310.1:p.Asp33567Asn
XM_017004822.1:c.97741G>A (TTN)	XP_016860311.1:p.Asp32581Asn
XM_017004823.1:c.79357G>A (TTN)	XP_016860312.1:p.Asp26453Asn
XM_024453094.1:c.100852G>A (TTN)	XP_024308862.1:p.Asp33618Asn
XM_024453095.1:c.100849G>A (TTN)	XP_024308863.1:p.Asp33617Asn
XM_024453096.1:c.100282G>A (TTN)	XP_024308864.1:p.Asp33428Asn
XM_024453097.1:c.97624G>A (TTN)	XP_024308865.1:p.Asp32542Asn
XM_024453098.1:c.97543G>A (TTN)	XP_024308866.1:p.Asp32515Asn
XM_024453099.1:c.79306G>A (TTN)	XP_024308867.1:p.Asp26436Asn
XM_024453100.1:c.69160G>A (TTN)	XP_024308868.1:p.Asp23054Asn