Canonical Allele Identifier: CA381652228

Gene: TPCN2

Linked Data

• MyVariant Identifiers: chr11:g.68855411T>A (hg19) ; chr11:g.69087943T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087943T>A , CM000673.2:g.69087943T>A	GRCh38
NC_000011.9:g.68855411T>A , CM000673.1:g.68855411T>A	GRCh37
NC_000011.8:g.68611987T>A	NCBI36
NG_016153.1:g.44062T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.1106T>A	ENSP00000509200.1:p.Leu369Gln
ENST00000294309.8:c.2249T>A MANE Select	ENSP00000294309.3:p.Leu750Gln
ENST00000635811.1:c.*444T>A	ENSP00000490341.1:n.*444T>A
ENST00000637084.1:c.1106T>A	ENSP00000490615.1:p.Leu369Gln
ENST00000637342.1:c.2003+2013T>A	ENSP00000490171.1:n.2003+2013T>A
ENST00000637504.1:c.*33+2657T>A	ENSP00000489759.1:n.*33+2657T>A
ENST00000294309.7:c.2249T>A	ENSP00000294309.3:p.Leu750Gln
ENST00000442692.2:n.1715T>A
ENST00000542467.1:c.1703T>A	ENSP00000445551.1:p.Leu568Gln
NM_139075.3:c.2249T>A	NP_620714.2:p.Leu750Gln
XM_005273824.2:c.2246T>A	XP_005273881.1:p.Leu749Gln
XM_005273826.2:c.1994T>A	XP_005273883.1:p.Leu665Gln
XM_005273830.2:c.1556T>A	XP_005273887.1:p.Leu519Gln
XM_005273831.2:c.1556T>A	XP_005273888.1:p.Leu519Gln
XM_005273832.2:c.1526T>A	XP_005273889.1:p.Leu509Gln
XM_006718453.2:c.1639+6444T>A	XP_006718516.1:n.1639+6444T>A
XM_006718454.2:c.1689+6444T>A	XP_006718517.1:n.1689+6444T>A
XM_011544802.1:c.2009T>A	XP_011543104.1:p.Leu670Gln
XM_011544807.1:c.1553T>A	XP_011543109.1:p.Leu518Gln
XM_011544808.1:c.1418T>A	XP_011543110.1:p.Leu473Gln
XM_005273824.4:c.2246T>A	XP_005273881.1:p.Leu749Gln
XM_005273826.4:c.1994T>A	XP_005273883.1:p.Leu665Gln
XM_005273830.4:c.1556T>A	XP_005273887.1:p.Leu519Gln
XM_005273831.4:c.1556T>A	XP_005273888.1:p.Leu519Gln
XM_005273832.4:c.1526T>A	XP_005273889.1:p.Leu509Gln
XM_011544802.3:c.2009T>A	XP_011543104.1:p.Leu670Gln
XM_011544807.3:c.1553T>A	XP_011543109.1:p.Leu518Gln
XM_011544808.3:c.1418T>A	XP_011543110.1:p.Leu473Gln
XM_017017328.2:c.2030T>A	XP_016872817.1:p.Leu677Gln
XM_017017329.2:c.2027T>A	XP_016872818.1:p.Leu676Gln
XM_017017330.2:c.1526T>A	XP_016872819.1:p.Leu509Gln
XM_017017331.2:c.1526T>A	XP_016872820.1:p.Leu509Gln
XM_017017332.2:c.1340T>A	XP_016872821.1:p.Leu447Gln
XM_017017333.2:c.1307T>A	XP_016872822.1:p.Leu436Gln
XM_017017334.2:c.1307T>A	XP_016872823.1:p.Leu436Gln
XM_017017335.2:c.1307T>A	XP_016872824.1:p.Leu436Gln
XM_017017336.2:c.1199T>A	XP_016872825.1:p.Leu400Gln
XM_024448392.1:c.2039T>A	XP_024304160.1:p.Leu680Gln
XM_024448393.1:c.1526T>A	XP_024304161.1:p.Leu509Gln
XR_001747789.2:n.2181T>A
XR_247191.3:n.2303T>A
NM_139075.4:c.2249T>A MANE Select	NP_620714.2:p.Leu750Gln