Canonical Allele Identifier: CA349488442

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2154185245
• MyVariant Identifiers: chr2:g.179456605G>A (hg19) ; chr2:g.178591878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591878G>A , CM000664.2:g.178591878G>A	GRCh38
NC_000002.11:g.179456605G>A , CM000664.1:g.179456605G>A	GRCh37
NC_000002.10:g.179164851G>A	NCBI36
NG_011618.3:g.243925C>T , LRG_391:g.243925C>T
NG_051363.1:g.74052G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52237C>T (TTN)	ENSP00000343764.6:p.Pro17413Ser
ENST00000342175.11:c.33322C>T (TTN)	ENSP00000340554.6:p.Pro11108Ser
ENST00000359218.10:c.33121C>T (TTN)	ENSP00000352154.5:p.Pro11041Ser
ENST00000342175.10:c.33322C>T (TTN)	ENSP00000340554.6:p.Pro11108Ser
ENST00000342992.10:c.52237C>T (TTN)	ENSP00000343764.6:p.Pro17413Ser
ENST00000359218.9:c.33121C>T (TTN)	ENSP00000352154.5:p.Pro11041Ser
ENST00000460472.6:c.32746C>T (TTN)	ENSP00000434586.1:p.Pro10916Ser
ENST00000589042.5:c.59941C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro19981Ser
ENST00000591111.5:c.55018C>T (TTN)	ENSP00000465570.1:p.Pro18340Ser
ENST00000615779.4:c.55018C>T (TTN)	ENSP00000483597.1:p.Pro18340Ser
NM_001256850.1:c.55018C>T (TTN)	NP_001243779.1:p.Pro18340Ser
NM_001267550.2:c.59941C>T (TTN) MANE Select	NP_001254479.2:p.Pro19981Ser
NM_003319.4:c.32746C>T (TTN)	NP_003310.4:p.Pro10916Ser
NM_133378.4:c.52237C>T (TTN)	NP_596869.4:p.Pro17413Ser
NM_133432.3:c.33121C>T (TTN)	NP_597676.3:p.Pro11041Ser
NM_133437.4:c.33322C>T (TTN)	NP_597681.4:p.Pro11108Ser
NR_038271.1:n.597-5718G>A (TTN-AS1)
NR_038272.1:n.3364+564G>A (TTN-AS1)
XM_011511729.1:c.59038C>T (TTN)	XP_011510031.1:p.Pro19680Ser
XM_011511730.1:c.32932C>T (TTN)	XP_011510032.1:p.Pro10978Ser
XM_011511731.1:c.32791C>T (TTN)	XP_011510033.1:p.Pro10931Ser
XM_017004819.1:c.58834C>T (TTN)	XP_016860308.1:p.Pro19612Ser
XM_017004820.1:c.54232C>T (TTN)	XP_016860309.1:p.Pro18078Ser
XM_017004821.1:c.54229C>T (TTN)	XP_016860310.1:p.Pro18077Ser
XM_017004822.1:c.51271C>T (TTN)	XP_016860311.1:p.Pro17091Ser
XM_017004823.1:c.32887C>T (TTN)	XP_016860312.1:p.Pro10963Ser
XM_024453094.1:c.54382C>T (TTN)	XP_024308862.1:p.Pro18128Ser
XM_024453095.1:c.54379C>T (TTN)	XP_024308863.1:p.Pro18127Ser
XM_024453096.1:c.53812C>T (TTN)	XP_024308864.1:p.Pro17938Ser
XM_024453097.1:c.51154C>T (TTN)	XP_024308865.1:p.Pro17052Ser
XM_024453098.1:c.51073C>T (TTN)	XP_024308866.1:p.Pro17025Ser
XM_024453099.1:c.32836C>T (TTN)	XP_024308867.1:p.Pro10946Ser
XM_024453100.1:c.22690C>T (TTN)	XP_024308868.1:p.Pro7564Ser