Canonical Allele Identifier: CA349400173

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179392322G>C (hg19) ; chr2:g.178527595G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527595G>C , CM000664.2:g.178527595G>C	GRCh38
NC_000002.11:g.179392322G>C , CM000664.1:g.179392322G>C	GRCh37
NC_000002.10:g.179100568G>C	NCBI36
NG_011618.3:g.308208C>G , LRG_391:g.308208C>G
NG_051363.1:g.9769G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.99827C>G (TTN)	ENSP00000343764.6:p.Thr33276Ser
ENST00000342175.11:c.80912C>G (TTN)	ENSP00000340554.6:p.Thr26971Ser
ENST00000359218.10:c.80711C>G (TTN)	ENSP00000352154.5:p.Thr26904Ser
ENST00000342175.10:c.80912C>G (TTN)	ENSP00000340554.6:p.Thr26971Ser
ENST00000342992.10:c.99827C>G (TTN)	ENSP00000343764.6:p.Thr33276Ser
ENST00000359218.9:c.80711C>G (TTN)	ENSP00000352154.5:p.Thr26904Ser
ENST00000460472.6:c.80336C>G (TTN)	ENSP00000434586.1:p.Thr26779Ser
ENST00000589042.5:c.107531C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr35844Ser
ENST00000591111.5:c.102608C>G (TTN)	ENSP00000465570.1:p.Thr34203Ser
ENST00000615779.4:c.102608C>G (TTN)	ENSP00000483597.1:p.Thr34203Ser
NM_001256850.1:c.102608C>G (TTN)	NP_001243779.1:p.Thr34203Ser
NM_001267550.2:c.107531C>G (TTN) MANE Select	NP_001254479.2:p.Thr35844Ser
NM_003319.4:c.80336C>G (TTN)	NP_003310.4:p.Thr26779Ser
NM_133378.4:c.99827C>G (TTN)	NP_596869.4:p.Thr33276Ser
NM_133432.3:c.80711C>G (TTN)	NP_597676.3:p.Thr26904Ser
NM_133437.4:c.80912C>G (TTN)	NP_597681.4:p.Thr26971Ser
NR_038271.1:n.446+3959G>C (TTN-AS1)
NR_038272.1:n.219+3959G>C (TTN-AS1)
XM_011511729.1:c.106628C>G (TTN)	XP_011510031.1:p.Thr35543Ser
XM_011511730.1:c.80522C>G (TTN)	XP_011510032.1:p.Thr26841Ser
XM_011511731.1:c.80381C>G (TTN)	XP_011510033.1:p.Thr26794Ser
XM_017004819.1:c.106424C>G (TTN)	XP_016860308.1:p.Thr35475Ser
XM_017004820.1:c.101822C>G (TTN)	XP_016860309.1:p.Thr33941Ser
XM_017004821.1:c.101819C>G (TTN)	XP_016860310.1:p.Thr33940Ser
XM_017004822.1:c.98861C>G (TTN)	XP_016860311.1:p.Thr32954Ser
XM_017004823.1:c.80477C>G (TTN)	XP_016860312.1:p.Thr26826Ser
XM_024453094.1:c.101972C>G (TTN)	XP_024308862.1:p.Thr33991Ser
XM_024453095.1:c.101969C>G (TTN)	XP_024308863.1:p.Thr33990Ser
XM_024453096.1:c.101402C>G (TTN)	XP_024308864.1:p.Thr33801Ser
XM_024453097.1:c.98744C>G (TTN)	XP_024308865.1:p.Thr32915Ser
XM_024453098.1:c.98663C>G (TTN)	XP_024308866.1:p.Thr32888Ser
XM_024453099.1:c.80426C>G (TTN)	XP_024308867.1:p.Thr26809Ser
XM_024453100.1:c.70280C>G (TTN)	XP_024308868.1:p.Thr23427Ser