Canonical Allele Identifier: CA1985432

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs780378332
• ExAC: 2:179396964 A / G
• gnomAD v2: 2-179396964-A-G
• gnomAD v4: 2-178532237-A-G
• MyVariant Identifiers: chr2:g.179396964A>G (hg19) ; chr2:g.178532237A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532237A>G , CM000664.2:g.178532237A>G	GRCh38
NC_000002.11:g.179396964A>G , CM000664.1:g.179396964A>G	GRCh37
NC_000002.10:g.179105210A>G	NCBI36
NG_011618.3:g.303566T>C , LRG_391:g.303566T>C
NG_051363.1:g.14411A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96674T>C (TTN)	ENSP00000343764.6:p.Met32225Thr
ENST00000342175.11:c.77759T>C (TTN)	ENSP00000340554.6:p.Met25920Thr
ENST00000359218.10:c.77558T>C (TTN)	ENSP00000352154.5:p.Met25853Thr
ENST00000342175.10:c.77759T>C (TTN)	ENSP00000340554.6:p.Met25920Thr
ENST00000342992.10:c.96674T>C (TTN)	ENSP00000343764.6:p.Met32225Thr
ENST00000359218.9:c.77558T>C (TTN)	ENSP00000352154.5:p.Met25853Thr
ENST00000460472.6:c.77183T>C (TTN)	ENSP00000434586.1:p.Met25728Thr
ENST00000589042.5:c.104378T>C (TTN) MANE Select	ENSP00000467141.1:p.Met34793Thr
ENST00000591111.5:c.99455T>C (TTN)	ENSP00000465570.1:p.Met33152Thr
ENST00000615779.4:c.99455T>C (TTN)	ENSP00000483597.1:p.Met33152Thr
NM_001256850.1:c.99455T>C (TTN)	NP_001243779.1:p.Met33152Thr
NM_001267550.2:c.104378T>C (TTN) MANE Select	NP_001254479.2:p.Met34793Thr
NM_003319.4:c.77183T>C (TTN)	NP_003310.4:p.Met25728Thr
NM_133378.4:c.96674T>C (TTN)	NP_596869.4:p.Met32225Thr
NM_133432.3:c.77558T>C (TTN)	NP_597676.3:p.Met25853Thr
NM_133437.4:c.77759T>C (TTN)	NP_597681.4:p.Met25920Thr
NR_038271.1:n.446+8601A>G (TTN-AS1)
NR_038272.1:n.220-3495A>G (TTN-AS1)
XM_011511729.1:c.103475T>C (TTN)	XP_011510031.1:p.Met34492Thr
XM_011511730.1:c.77369T>C (TTN)	XP_011510032.1:p.Met25790Thr
XM_011511731.1:c.77228T>C (TTN)	XP_011510033.1:p.Met25743Thr
XM_017004819.1:c.103271T>C (TTN)	XP_016860308.1:p.Met34424Thr
XM_017004820.1:c.98669T>C (TTN)	XP_016860309.1:p.Met32890Thr
XM_017004821.1:c.98666T>C (TTN)	XP_016860310.1:p.Met32889Thr
XM_017004822.1:c.95708T>C (TTN)	XP_016860311.1:p.Met31903Thr
XM_017004823.1:c.77324T>C (TTN)	XP_016860312.1:p.Met25775Thr
XM_024453094.1:c.98819T>C (TTN)	XP_024308862.1:p.Met32940Thr
XM_024453095.1:c.98816T>C (TTN)	XP_024308863.1:p.Met32939Thr
XM_024453096.1:c.98249T>C (TTN)	XP_024308864.1:p.Met32750Thr
XM_024453097.1:c.95591T>C (TTN)	XP_024308865.1:p.Met31864Thr
XM_024453098.1:c.95510T>C (TTN)	XP_024308866.1:p.Met31837Thr
XM_024453099.1:c.77273T>C (TTN)	XP_024308867.1:p.Met25758Thr
XM_024453100.1:c.67127T>C (TTN)	XP_024308868.1:p.Met22376Thr