Canonical Allele Identifier: CA349640296

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179489231C>G (hg19) ; chr2:g.178624504C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624504C>G , CM000664.2:g.178624504C>G	GRCh38
NC_000002.11:g.179489231C>G , CM000664.1:g.179489231C>G	GRCh37
NC_000002.10:g.179197476C>G	NCBI36
NG_011618.3:g.211299G>C , LRG_391:g.211299G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37072G>C	ENSP00000343764.6:p.Ala12358Pro
ENST00000342175.11:c.18157G>C	ENSP00000340554.6:p.Ala6053Pro
ENST00000359218.10:c.17956G>C	ENSP00000352154.5:p.Ala5986Pro
ENST00000342175.10:c.18157G>C	ENSP00000340554.6:p.Ala6053Pro
ENST00000342992.10:c.37072G>C	ENSP00000343764.6:p.Ala12358Pro
ENST00000359218.9:c.17956G>C	ENSP00000352154.5:p.Ala5986Pro
ENST00000460472.6:c.17581G>C	ENSP00000434586.1:p.Ala5861Pro
ENST00000589042.5:c.44776G>C MANE Select	ENSP00000467141.1:p.Ala14926Pro
ENST00000591111.5:c.39853G>C	ENSP00000465570.1:p.Ala13285Pro
ENST00000615779.4:c.39853G>C	ENSP00000483597.1:p.Ala13285Pro
NM_001256850.1:c.39853G>C	NP_001243779.1:p.Ala13285Pro
NM_001267550.2:c.44776G>C MANE Select	NP_001254479.2:p.Ala14926Pro
NM_003319.4:c.17581G>C	NP_003310.4:p.Ala5861Pro
NM_133378.4:c.37072G>C	NP_596869.4:p.Ala12358Pro
NM_133432.3:c.17956G>C	NP_597676.3:p.Ala5986Pro
NM_133437.4:c.18157G>C	NP_597681.4:p.Ala6053Pro
XM_011511729.1:c.43873G>C	XP_011510031.1:p.Ala14625Pro
XM_011511730.1:c.17767G>C	XP_011510032.1:p.Ala5923Pro
XM_011511731.1:c.17626G>C	XP_011510033.1:p.Ala5876Pro
XM_017004819.1:c.43669G>C	XP_016860308.1:p.Ala14557Pro
XM_017004820.1:c.39067G>C	XP_016860309.1:p.Ala13023Pro
XM_017004821.1:c.39064G>C	XP_016860310.1:p.Ala13022Pro
XM_017004822.1:c.36106G>C	XP_016860311.1:p.Ala12036Pro
XM_017004823.1:c.17722G>C	XP_016860312.1:p.Ala5908Pro
XM_024453094.1:c.39217G>C	XP_024308862.1:p.Ala13073Pro
XM_024453095.1:c.39214G>C	XP_024308863.1:p.Ala13072Pro
XM_024453096.1:c.38647G>C	XP_024308864.1:p.Ala12883Pro
XM_024453097.1:c.35989G>C	XP_024308865.1:p.Ala11997Pro
XM_024453098.1:c.35908G>C	XP_024308866.1:p.Ala11970Pro
XM_024453099.1:c.17671G>C	XP_024308867.1:p.Ala5891Pro
XM_024453100.1:c.7525G>C	XP_024308868.1:p.Ala2509Pro