Canonical Allele Identifier: CA349496434

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178549864-G-A
• MyVariant Identifiers: chr2:g.179414591G>A (hg19) ; chr2:g.178549864G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549864G>A , CM000664.2:g.178549864G>A	GRCh38
NC_000002.11:g.179414591G>A , CM000664.1:g.179414591G>A	GRCh37
NC_000002.10:g.179122837G>A	NCBI36
NG_011618.3:g.285939C>T , LRG_391:g.285939C>T
NG_051363.1:g.32038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84154C>T (TTN)	ENSP00000343764.6:p.Pro28052Ser
ENST00000342175.11:c.65239C>T (TTN)	ENSP00000340554.6:p.Pro21747Ser
ENST00000359218.10:c.65038C>T (TTN)	ENSP00000352154.5:p.Pro21680Ser
ENST00000342175.10:c.65239C>T (TTN)	ENSP00000340554.6:p.Pro21747Ser
ENST00000342992.10:c.84154C>T (TTN)	ENSP00000343764.6:p.Pro28052Ser
ENST00000359218.9:c.65038C>T (TTN)	ENSP00000352154.5:p.Pro21680Ser
ENST00000460472.6:c.64663C>T (TTN)	ENSP00000434586.1:p.Pro21555Ser
ENST00000589042.5:c.91858C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro30620Ser
ENST00000591111.5:c.86935C>T (TTN)	ENSP00000465570.1:p.Pro28979Ser
ENST00000615779.4:c.86935C>T (TTN)	ENSP00000483597.1:p.Pro28979Ser
NM_001256850.1:c.86935C>T (TTN)	NP_001243779.1:p.Pro28979Ser
NM_001267550.2:c.91858C>T (TTN) MANE Select	NP_001254479.2:p.Pro30620Ser
NM_003319.4:c.64663C>T (TTN)	NP_003310.4:p.Pro21555Ser
NM_133378.4:c.84154C>T (TTN)	NP_596869.4:p.Pro28052Ser
NM_133432.3:c.65038C>T (TTN)	NP_597676.3:p.Pro21680Ser
NM_133437.4:c.65239C>T (TTN)	NP_597681.4:p.Pro21747Ser
NR_038271.1:n.447-21436G>A (TTN-AS1)
NR_038272.1:n.2043+7503G>A (TTN-AS1)
XM_011511729.1:c.90955C>T (TTN)	XP_011510031.1:p.Pro30319Ser
XM_011511730.1:c.64849C>T (TTN)	XP_011510032.1:p.Pro21617Ser
XM_011511731.1:c.64708C>T (TTN)	XP_011510033.1:p.Pro21570Ser
XM_017004819.1:c.90751C>T (TTN)	XP_016860308.1:p.Pro30251Ser
XM_017004820.1:c.86149C>T (TTN)	XP_016860309.1:p.Pro28717Ser
XM_017004821.1:c.86146C>T (TTN)	XP_016860310.1:p.Pro28716Ser
XM_017004822.1:c.83188C>T (TTN)	XP_016860311.1:p.Pro27730Ser
XM_017004823.1:c.64804C>T (TTN)	XP_016860312.1:p.Pro21602Ser
XM_024453094.1:c.86299C>T (TTN)	XP_024308862.1:p.Pro28767Ser
XM_024453095.1:c.86296C>T (TTN)	XP_024308863.1:p.Pro28766Ser
XM_024453096.1:c.85729C>T (TTN)	XP_024308864.1:p.Pro28577Ser
XM_024453097.1:c.83071C>T (TTN)	XP_024308865.1:p.Pro27691Ser
XM_024453098.1:c.82990C>T (TTN)	XP_024308866.1:p.Pro27664Ser
XM_024453099.1:c.64753C>T (TTN)	XP_024308867.1:p.Pro21585Ser
XM_024453100.1:c.54607C>T (TTN)	XP_024308868.1:p.Pro18203Ser