Canonical Allele Identifier: CA349543299

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs747031060
• gnomAD v2: 2-179424364-C-T
• gnomAD v4: 2-178559637-C-T
• MyVariant Identifiers: chr2:g.179424364C>T (hg19) ; chr2:g.178559637C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559637C>T , CM000664.2:g.178559637C>T	GRCh38
NC_000002.11:g.179424364C>T , CM000664.1:g.179424364C>T	GRCh37
NC_000002.10:g.179132610C>T	NCBI36
NG_011618.3:g.276166G>A , LRG_391:g.276166G>A
NG_051363.1:g.41811C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.78791G>A (TTN)	ENSP00000343764.6:p.Ser26264Asn
ENST00000342175.11:c.59876G>A (TTN)	ENSP00000340554.6:p.Ser19959Asn
ENST00000359218.10:c.59675G>A (TTN)	ENSP00000352154.5:p.Ser19892Asn
ENST00000342175.10:c.59876G>A (TTN)	ENSP00000340554.6:p.Ser19959Asn
ENST00000342992.10:c.78791G>A (TTN)	ENSP00000343764.6:p.Ser26264Asn
ENST00000359218.9:c.59675G>A (TTN)	ENSP00000352154.5:p.Ser19892Asn
ENST00000460472.6:c.59300G>A (TTN)	ENSP00000434586.1:p.Ser19767Asn
ENST00000589042.5:c.86495G>A (TTN) MANE Select	ENSP00000467141.1:p.Ser28832Asn
ENST00000591111.5:c.81572G>A (TTN)	ENSP00000465570.1:p.Ser27191Asn
ENST00000615779.4:c.81572G>A (TTN)	ENSP00000483597.1:p.Ser27191Asn
NM_001256850.1:c.81572G>A (TTN)	NP_001243779.1:p.Ser27191Asn
NM_001267550.2:c.86495G>A (TTN) MANE Select	NP_001254479.2:p.Ser28832Asn
NM_003319.4:c.59300G>A (TTN)	NP_003310.4:p.Ser19767Asn
NM_133378.4:c.78791G>A (TTN)	NP_596869.4:p.Ser26264Asn
NM_133432.3:c.59675G>A (TTN)	NP_597676.3:p.Ser19892Asn
NM_133437.4:c.59876G>A (TTN)	NP_597681.4:p.Ser19959Asn
NR_038271.1:n.447-11663C>T (TTN-AS1)
NR_038272.1:n.2043+17276C>T (TTN-AS1)
XM_011511729.1:c.85592G>A (TTN)	XP_011510031.1:p.Ser28531Asn
XM_011511730.1:c.59486G>A (TTN)	XP_011510032.1:p.Ser19829Asn
XM_011511731.1:c.59345G>A (TTN)	XP_011510033.1:p.Ser19782Asn
XM_017004819.1:c.85388G>A (TTN)	XP_016860308.1:p.Ser28463Asn
XM_017004820.1:c.80786G>A (TTN)	XP_016860309.1:p.Ser26929Asn
XM_017004821.1:c.80783G>A (TTN)	XP_016860310.1:p.Ser26928Asn
XM_017004822.1:c.77825G>A (TTN)	XP_016860311.1:p.Ser25942Asn
XM_017004823.1:c.59441G>A (TTN)	XP_016860312.1:p.Ser19814Asn
XM_024453094.1:c.80936G>A (TTN)	XP_024308862.1:p.Ser26979Asn
XM_024453095.1:c.80933G>A (TTN)	XP_024308863.1:p.Ser26978Asn
XM_024453096.1:c.80366G>A (TTN)	XP_024308864.1:p.Ser26789Asn
XM_024453097.1:c.77708G>A (TTN)	XP_024308865.1:p.Ser25903Asn
XM_024453098.1:c.77627G>A (TTN)	XP_024308866.1:p.Ser25876Asn
XM_024453099.1:c.59390G>A (TTN)	XP_024308867.1:p.Ser19797Asn
XM_024453100.1:c.49244G>A (TTN)	XP_024308868.1:p.Ser16415Asn