Canonical Allele Identifier: CA349436133

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2048549278
• gnomAD v3: 2-178584689-A-C
• gnomAD v4: 2-178584689-A-C
• MyVariant Identifiers: chr2:g.179449416A>C (hg19) ; chr2:g.178584689A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584689A>C , CM000664.2:g.178584689A>C	GRCh38
NC_000002.11:g.179449416A>C , CM000664.1:g.179449416A>C	GRCh37
NC_000002.10:g.179157662A>C	NCBI36
NG_011618.3:g.251114T>G , LRG_391:g.251114T>G
NG_051363.1:g.66863A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57248T>G (TTN)	ENSP00000343764.6:p.Met19083Arg
ENST00000342175.11:c.38333T>G (TTN)	ENSP00000340554.6:p.Met12778Arg
ENST00000359218.10:c.38132T>G (TTN)	ENSP00000352154.5:p.Met12711Arg
ENST00000342175.10:c.38333T>G (TTN)	ENSP00000340554.6:p.Met12778Arg
ENST00000342992.10:c.57248T>G (TTN)	ENSP00000343764.6:p.Met19083Arg
ENST00000359218.9:c.38132T>G (TTN)	ENSP00000352154.5:p.Met12711Arg
ENST00000460472.6:c.37757T>G (TTN)	ENSP00000434586.1:p.Met12586Arg
ENST00000589042.5:c.64952T>G (TTN) MANE Select	ENSP00000467141.1:p.Met21651Arg
ENST00000591111.5:c.60029T>G (TTN)	ENSP00000465570.1:p.Met20010Arg
ENST00000615779.4:c.60029T>G (TTN)	ENSP00000483597.1:p.Met20010Arg
NM_001256850.1:c.60029T>G (TTN)	NP_001243779.1:p.Met20010Arg
NM_001267550.2:c.64952T>G (TTN) MANE Select	NP_001254479.2:p.Met21651Arg
NM_003319.4:c.37757T>G (TTN)	NP_003310.4:p.Met12586Arg
NM_133378.4:c.57248T>G (TTN)	NP_596869.4:p.Met19083Arg
NM_133432.3:c.38132T>G (TTN)	NP_597676.3:p.Met12711Arg
NM_133437.4:c.38333T>G (TTN)	NP_597681.4:p.Met12778Arg
NR_038271.1:n.597-12907A>C (TTN-AS1)
NR_038272.1:n.2884A>C (TTN-AS1)
XM_011511729.1:c.64049T>G (TTN)	XP_011510031.1:p.Met21350Arg
XM_011511730.1:c.37943T>G (TTN)	XP_011510032.1:p.Met12648Arg
XM_011511731.1:c.37802T>G (TTN)	XP_011510033.1:p.Met12601Arg
XM_017004819.1:c.63845T>G (TTN)	XP_016860308.1:p.Met21282Arg
XM_017004820.1:c.59243T>G (TTN)	XP_016860309.1:p.Met19748Arg
XM_017004821.1:c.59240T>G (TTN)	XP_016860310.1:p.Met19747Arg
XM_017004822.1:c.56282T>G (TTN)	XP_016860311.1:p.Met18761Arg
XM_017004823.1:c.37898T>G (TTN)	XP_016860312.1:p.Met12633Arg
XM_024453094.1:c.59393T>G (TTN)	XP_024308862.1:p.Met19798Arg
XM_024453095.1:c.59390T>G (TTN)	XP_024308863.1:p.Met19797Arg
XM_024453096.1:c.58823T>G (TTN)	XP_024308864.1:p.Met19608Arg
XM_024453097.1:c.56165T>G (TTN)	XP_024308865.1:p.Met18722Arg
XM_024453098.1:c.56084T>G (TTN)	XP_024308866.1:p.Met18695Arg
XM_024453099.1:c.37847T>G (TTN)	XP_024308867.1:p.Met12616Arg
XM_024453100.1:c.27701T>G (TTN)	XP_024308868.1:p.Met9234Arg