Canonical Allele Identifier: CA381652143

Gene: TPCN2

Linked Data

• MyVariant Identifiers: chr11:g.68855371G>C (hg19) ; chr11:g.69087903G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087903G>C , CM000673.2:g.69087903G>C	GRCh38
NC_000011.9:g.68855371G>C , CM000673.1:g.68855371G>C	GRCh37
NC_000011.8:g.68611947G>C	NCBI36
NG_016153.1:g.44022G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000692585.1:c.1066G>C	ENSP00000509200.1:p.Glu356Gln
ENST00000294309.8:c.2209G>C MANE Select	ENSP00000294309.3:p.Glu737Gln
ENST00000635811.1:c.*404G>C	ENSP00000490341.1:n.*404G>C
ENST00000637084.1:c.1066G>C	ENSP00000490615.1:p.Glu356Gln
ENST00000637342.1:c.2003+1973G>C	ENSP00000490171.1:n.2003+1973G>C
ENST00000637504.1:c.*33+2617G>C	ENSP00000489759.1:n.*33+2617G>C
ENST00000294309.7:c.2209G>C	ENSP00000294309.3:p.Glu737Gln
ENST00000442692.2:n.1675G>C
ENST00000542467.1:c.1663G>C	ENSP00000445551.1:p.Glu555Gln
NM_139075.3:c.2209G>C	NP_620714.2:p.Glu737Gln
XM_005273824.2:c.2206G>C	XP_005273881.1:p.Glu736Gln
XM_005273826.2:c.1954G>C	XP_005273883.1:p.Glu652Gln
XM_005273830.2:c.1516G>C	XP_005273887.1:p.Glu506Gln
XM_005273831.2:c.1516G>C	XP_005273888.1:p.Glu506Gln
XM_005273832.2:c.1486G>C	XP_005273889.1:p.Glu496Gln
XM_006718453.2:c.1639+6404G>C	XP_006718516.1:n.1639+6404G>C
XM_006718454.2:c.1689+6404G>C	XP_006718517.1:n.1689+6404G>C
XM_011544802.1:c.1969G>C	XP_011543104.1:p.Glu657Gln
XM_011544807.1:c.1513G>C	XP_011543109.1:p.Glu505Gln
XM_011544808.1:c.1378G>C	XP_011543110.1:p.Glu460Gln
XR_247191.1:n.2260G>C
XM_005273824.4:c.2206G>C	XP_005273881.1:p.Glu736Gln
XM_005273826.4:c.1954G>C	XP_005273883.1:p.Glu652Gln
XM_005273830.4:c.1516G>C	XP_005273887.1:p.Glu506Gln
XM_005273831.4:c.1516G>C	XP_005273888.1:p.Glu506Gln
XM_005273832.4:c.1486G>C	XP_005273889.1:p.Glu496Gln
XM_011544802.3:c.1969G>C	XP_011543104.1:p.Glu657Gln
XM_011544807.3:c.1513G>C	XP_011543109.1:p.Glu505Gln
XM_011544808.3:c.1378G>C	XP_011543110.1:p.Glu460Gln
XM_017017328.2:c.1990G>C	XP_016872817.1:p.Glu664Gln
XM_017017329.2:c.1987G>C	XP_016872818.1:p.Glu663Gln
XM_017017330.2:c.1486G>C	XP_016872819.1:p.Glu496Gln
XM_017017331.2:c.1486G>C	XP_016872820.1:p.Glu496Gln
XM_017017332.2:c.1300G>C	XP_016872821.1:p.Glu434Gln
XM_017017333.2:c.1267G>C	XP_016872822.1:p.Glu423Gln
XM_017017334.2:c.1267G>C	XP_016872823.1:p.Glu423Gln
XM_017017335.2:c.1267G>C	XP_016872824.1:p.Glu423Gln
XM_017017336.2:c.1159G>C	XP_016872825.1:p.Glu387Gln
XM_024448392.1:c.1999G>C	XP_024304160.1:p.Glu667Gln
XM_024448393.1:c.1486G>C	XP_024304161.1:p.Glu496Gln
XR_001747789.2:n.2141G>C
XR_247191.3:n.2263G>C
NM_139075.4:c.2209G>C MANE Select	NP_620714.2:p.Glu737Gln