Canonical Allele Identifier: CA349500040

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457936G>A (hg19) ; chr2:g.178593209G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593209G>A , CM000664.2:g.178593209G>A	GRCh38
NC_000002.11:g.179457936G>A , CM000664.1:g.179457936G>A	GRCh37
NC_000002.10:g.179166182G>A	NCBI36
NG_011618.3:g.242594C>T , LRG_391:g.242594C>T
NG_051363.1:g.75383G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51295C>T (TTN)	ENSP00000343764.6:p.Pro17099Ser
ENST00000342175.11:c.32380C>T (TTN)	ENSP00000340554.6:p.Pro10794Ser
ENST00000359218.10:c.32179C>T (TTN)	ENSP00000352154.5:p.Pro10727Ser
ENST00000342175.10:c.32380C>T (TTN)	ENSP00000340554.6:p.Pro10794Ser
ENST00000342992.10:c.51295C>T (TTN)	ENSP00000343764.6:p.Pro17099Ser
ENST00000359218.9:c.32179C>T (TTN)	ENSP00000352154.5:p.Pro10727Ser
ENST00000460472.6:c.31804C>T (TTN)	ENSP00000434586.1:p.Pro10602Ser
ENST00000589042.5:c.58999C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro19667Ser
ENST00000591111.5:c.54076C>T (TTN)	ENSP00000465570.1:p.Pro18026Ser
ENST00000615779.4:c.54076C>T (TTN)	ENSP00000483597.1:p.Pro18026Ser
NM_001256850.1:c.54076C>T (TTN)	NP_001243779.1:p.Pro18026Ser
NM_001267550.2:c.58999C>T (TTN) MANE Select	NP_001254479.2:p.Pro19667Ser
NM_003319.4:c.31804C>T (TTN)	NP_003310.4:p.Pro10602Ser
NM_133378.4:c.51295C>T (TTN)	NP_596869.4:p.Pro17099Ser
NM_133432.3:c.32179C>T (TTN)	NP_597676.3:p.Pro10727Ser
NM_133437.4:c.32380C>T (TTN)	NP_597681.4:p.Pro10794Ser
NR_038271.1:n.597-4387G>A (TTN-AS1)
NR_038272.1:n.3364+1895G>A (TTN-AS1)
XM_011511729.1:c.58096C>T (TTN)	XP_011510031.1:p.Pro19366Ser
XM_011511730.1:c.31990C>T (TTN)	XP_011510032.1:p.Pro10664Ser
XM_011511731.1:c.31849C>T (TTN)	XP_011510033.1:p.Pro10617Ser
XM_017004819.1:c.57892C>T (TTN)	XP_016860308.1:p.Pro19298Ser
XM_017004820.1:c.53290C>T (TTN)	XP_016860309.1:p.Pro17764Ser
XM_017004821.1:c.53287C>T (TTN)	XP_016860310.1:p.Pro17763Ser
XM_017004822.1:c.50329C>T (TTN)	XP_016860311.1:p.Pro16777Ser
XM_017004823.1:c.31945C>T (TTN)	XP_016860312.1:p.Pro10649Ser
XM_024453094.1:c.53440C>T (TTN)	XP_024308862.1:p.Pro17814Ser
XM_024453095.1:c.53437C>T (TTN)	XP_024308863.1:p.Pro17813Ser
XM_024453096.1:c.52870C>T (TTN)	XP_024308864.1:p.Pro17624Ser
XM_024453097.1:c.50212C>T (TTN)	XP_024308865.1:p.Pro16738Ser
XM_024453098.1:c.50131C>T (TTN)	XP_024308866.1:p.Pro16711Ser
XM_024453099.1:c.31894C>T (TTN)	XP_024308867.1:p.Pro10632Ser
XM_024453100.1:c.21748C>T (TTN)	XP_024308868.1:p.Pro7250Ser