Canonical Allele Identifier: CA349427707

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178537531-G-A
• MyVariant Identifiers: chr2:g.179402258G>A (hg19) ; chr2:g.178537531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537531G>A , CM000664.2:g.178537531G>A	GRCh38
NC_000002.11:g.179402258G>A , CM000664.1:g.179402258G>A	GRCh37
NC_000002.10:g.179110504G>A	NCBI36
NG_011618.3:g.298272C>T , LRG_391:g.298272C>T
NG_051363.1:g.19705G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91972C>T (TTN)	ENSP00000343764.6:p.Pro30658Ser
ENST00000342175.11:c.73057C>T (TTN)	ENSP00000340554.6:p.Pro24353Ser
ENST00000359218.10:c.72856C>T (TTN)	ENSP00000352154.5:p.Pro24286Ser
ENST00000342175.10:c.73057C>T (TTN)	ENSP00000340554.6:p.Pro24353Ser
ENST00000342992.10:c.91972C>T (TTN)	ENSP00000343764.6:p.Pro30658Ser
ENST00000359218.9:c.72856C>T (TTN)	ENSP00000352154.5:p.Pro24286Ser
ENST00000460472.6:c.72481C>T (TTN)	ENSP00000434586.1:p.Pro24161Ser
ENST00000589042.5:c.99676C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro33226Ser
ENST00000591111.5:c.94753C>T (TTN)	ENSP00000465570.1:p.Pro31585Ser
ENST00000615779.4:c.94753C>T (TTN)	ENSP00000483597.1:p.Pro31585Ser
NM_001256850.1:c.94753C>T (TTN)	NP_001243779.1:p.Pro31585Ser
NM_001267550.2:c.99676C>T (TTN) MANE Select	NP_001254479.2:p.Pro33226Ser
NM_003319.4:c.72481C>T (TTN)	NP_003310.4:p.Pro24161Ser
NM_133378.4:c.91972C>T (TTN)	NP_596869.4:p.Pro30658Ser
NM_133432.3:c.72856C>T (TTN)	NP_597676.3:p.Pro24286Ser
NM_133437.4:c.73057C>T (TTN)	NP_597681.4:p.Pro24353Ser
NR_038271.1:n.446+13895G>A (TTN-AS1)
NR_038272.1:n.487G>A (TTN-AS1)
XM_011511729.1:c.98773C>T (TTN)	XP_011510031.1:p.Pro32925Ser
XM_011511730.1:c.72667C>T (TTN)	XP_011510032.1:p.Pro24223Ser
XM_011511731.1:c.72526C>T (TTN)	XP_011510033.1:p.Pro24176Ser
XM_017004819.1:c.98569C>T (TTN)	XP_016860308.1:p.Pro32857Ser
XM_017004820.1:c.93967C>T (TTN)	XP_016860309.1:p.Pro31323Ser
XM_017004821.1:c.93964C>T (TTN)	XP_016860310.1:p.Pro31322Ser
XM_017004822.1:c.91006C>T (TTN)	XP_016860311.1:p.Pro30336Ser
XM_017004823.1:c.72622C>T (TTN)	XP_016860312.1:p.Pro24208Ser
XM_024453094.1:c.94117C>T (TTN)	XP_024308862.1:p.Pro31373Ser
XM_024453095.1:c.94114C>T (TTN)	XP_024308863.1:p.Pro31372Ser
XM_024453096.1:c.93547C>T (TTN)	XP_024308864.1:p.Pro31183Ser
XM_024453097.1:c.90889C>T (TTN)	XP_024308865.1:p.Pro30297Ser
XM_024453098.1:c.90808C>T (TTN)	XP_024308866.1:p.Pro30270Ser
XM_024453099.1:c.72571C>T (TTN)	XP_024308867.1:p.Pro24191Ser
XM_024453100.1:c.62425C>T (TTN)	XP_024308868.1:p.Pro20809Ser