Canonical Allele Identifier: CA381652148

Gene: TPCN2

Linked Data

• MyVariant Identifiers: chr11:g.68855373G>T (hg19) ; chr11:g.69087905G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087905G>T , CM000673.2:g.69087905G>T	GRCh38
NC_000011.9:g.68855373G>T , CM000673.1:g.68855373G>T	GRCh37
NC_000011.8:g.68611949G>T	NCBI36
NG_016153.1:g.44024G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.1068G>T	ENSP00000509200.1:p.Glu356Asp
ENST00000294309.8:c.2211G>T MANE Select	ENSP00000294309.3:p.Glu737Asp
ENST00000635811.1:c.*406G>T	ENSP00000490341.1:n.*406G>T
ENST00000637084.1:c.1068G>T	ENSP00000490615.1:p.Glu356Asp
ENST00000637342.1:c.2003+1975G>T	ENSP00000490171.1:n.2003+1975G>T
ENST00000637504.1:c.*33+2619G>T	ENSP00000489759.1:n.*33+2619G>T
ENST00000294309.7:c.2211G>T	ENSP00000294309.3:p.Glu737Asp
ENST00000442692.2:n.1677G>T
ENST00000542467.1:c.1665G>T	ENSP00000445551.1:p.Glu555Asp
NM_139075.3:c.2211G>T	NP_620714.2:p.Glu737Asp
XM_005273824.2:c.2208G>T	XP_005273881.1:p.Glu736Asp
XM_005273826.2:c.1956G>T	XP_005273883.1:p.Glu652Asp
XM_005273830.2:c.1518G>T	XP_005273887.1:p.Glu506Asp
XM_005273831.2:c.1518G>T	XP_005273888.1:p.Glu506Asp
XM_005273832.2:c.1488G>T	XP_005273889.1:p.Glu496Asp
XM_006718453.2:c.1639+6406G>T	XP_006718516.1:n.1639+6406G>T
XM_006718454.2:c.1689+6406G>T	XP_006718517.1:n.1689+6406G>T
XM_011544802.1:c.1971G>T	XP_011543104.1:p.Glu657Asp
XM_011544807.1:c.1515G>T	XP_011543109.1:p.Glu505Asp
XM_011544808.1:c.1380G>T	XP_011543110.1:p.Glu460Asp
XR_247191.1:n.2262G>T
XM_005273824.4:c.2208G>T	XP_005273881.1:p.Glu736Asp
XM_005273826.4:c.1956G>T	XP_005273883.1:p.Glu652Asp
XM_005273830.4:c.1518G>T	XP_005273887.1:p.Glu506Asp
XM_005273831.4:c.1518G>T	XP_005273888.1:p.Glu506Asp
XM_005273832.4:c.1488G>T	XP_005273889.1:p.Glu496Asp
XM_011544802.3:c.1971G>T	XP_011543104.1:p.Glu657Asp
XM_011544807.3:c.1515G>T	XP_011543109.1:p.Glu505Asp
XM_011544808.3:c.1380G>T	XP_011543110.1:p.Glu460Asp
XM_017017328.2:c.1992G>T	XP_016872817.1:p.Glu664Asp
XM_017017329.2:c.1989G>T	XP_016872818.1:p.Glu663Asp
XM_017017330.2:c.1488G>T	XP_016872819.1:p.Glu496Asp
XM_017017331.2:c.1488G>T	XP_016872820.1:p.Glu496Asp
XM_017017332.2:c.1302G>T	XP_016872821.1:p.Glu434Asp
XM_017017333.2:c.1269G>T	XP_016872822.1:p.Glu423Asp
XM_017017334.2:c.1269G>T	XP_016872823.1:p.Glu423Asp
XM_017017335.2:c.1269G>T	XP_016872824.1:p.Glu423Asp
XM_017017336.2:c.1161G>T	XP_016872825.1:p.Glu387Asp
XM_024448392.1:c.2001G>T	XP_024304160.1:p.Glu667Asp
XM_024448393.1:c.1488G>T	XP_024304161.1:p.Glu496Asp
XR_001747789.2:n.2143G>T
XR_247191.3:n.2265G>T
NM_139075.4:c.2211G>T MANE Select	NP_620714.2:p.Glu737Asp