Canonical Allele Identifier: CA1987535

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs780636599
• ExAC: 2:179414551 G / C
• gnomAD v2: 2-179414551-G-C
• MyVariant Identifiers: chr2:g.179414551G>C (hg19) ; chr2:g.178549824G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549824G>C , CM000664.2:g.178549824G>C	GRCh38
NC_000002.11:g.179414551G>C , CM000664.1:g.179414551G>C	GRCh37
NC_000002.10:g.179122797G>C	NCBI36
NG_011618.3:g.285979C>G , LRG_391:g.285979C>G
NG_051363.1:g.31998G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84194C>G (TTN)	ENSP00000343764.6:p.Thr28065Ser
ENST00000342175.11:c.65279C>G (TTN)	ENSP00000340554.6:p.Thr21760Ser
ENST00000359218.10:c.65078C>G (TTN)	ENSP00000352154.5:p.Thr21693Ser
ENST00000342175.10:c.65279C>G (TTN)	ENSP00000340554.6:p.Thr21760Ser
ENST00000342992.10:c.84194C>G (TTN)	ENSP00000343764.6:p.Thr28065Ser
ENST00000359218.9:c.65078C>G (TTN)	ENSP00000352154.5:p.Thr21693Ser
ENST00000460472.6:c.64703C>G (TTN)	ENSP00000434586.1:p.Thr21568Ser
ENST00000589042.5:c.91898C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr30633Ser
ENST00000591111.5:c.86975C>G (TTN)	ENSP00000465570.1:p.Thr28992Ser
ENST00000615779.4:c.86975C>G (TTN)	ENSP00000483597.1:p.Thr28992Ser
NM_001256850.1:c.86975C>G (TTN)	NP_001243779.1:p.Thr28992Ser
NM_001267550.2:c.91898C>G (TTN) MANE Select	NP_001254479.2:p.Thr30633Ser
NM_003319.4:c.64703C>G (TTN)	NP_003310.4:p.Thr21568Ser
NM_133378.4:c.84194C>G (TTN)	NP_596869.4:p.Thr28065Ser
NM_133432.3:c.65078C>G (TTN)	NP_597676.3:p.Thr21693Ser
NM_133437.4:c.65279C>G (TTN)	NP_597681.4:p.Thr21760Ser
NR_038271.1:n.447-21476G>C (TTN-AS1)
NR_038272.1:n.2043+7463G>C (TTN-AS1)
XM_011511729.1:c.90995C>G (TTN)	XP_011510031.1:p.Thr30332Ser
XM_011511730.1:c.64889C>G (TTN)	XP_011510032.1:p.Thr21630Ser
XM_011511731.1:c.64748C>G (TTN)	XP_011510033.1:p.Thr21583Ser
XM_017004819.1:c.90791C>G (TTN)	XP_016860308.1:p.Thr30264Ser
XM_017004820.1:c.86189C>G (TTN)	XP_016860309.1:p.Thr28730Ser
XM_017004821.1:c.86186C>G (TTN)	XP_016860310.1:p.Thr28729Ser
XM_017004822.1:c.83228C>G (TTN)	XP_016860311.1:p.Thr27743Ser
XM_017004823.1:c.64844C>G (TTN)	XP_016860312.1:p.Thr21615Ser
XM_024453094.1:c.86339C>G (TTN)	XP_024308862.1:p.Thr28780Ser
XM_024453095.1:c.86336C>G (TTN)	XP_024308863.1:p.Thr28779Ser
XM_024453096.1:c.85769C>G (TTN)	XP_024308864.1:p.Thr28590Ser
XM_024453097.1:c.83111C>G (TTN)	XP_024308865.1:p.Thr27704Ser
XM_024453098.1:c.83030C>G (TTN)	XP_024308866.1:p.Thr27677Ser
XM_024453099.1:c.64793C>G (TTN)	XP_024308867.1:p.Thr21598Ser
XM_024453100.1:c.54647C>G (TTN)	XP_024308868.1:p.Thr18216Ser