Canonical Allele Identifier: CA475209956

Gene: TPCN2

Linked Data

• MyVariant Identifiers: chr11:g.68846488G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69079020G>A , CM000673.2:g.69079020G>A	GRCh38
NC_000011.9:g.68846488G>A , CM000673.1:g.68846488G>A	GRCh37
NC_000011.8:g.68603064G>A	NCBI36
NG_016153.1:g.35139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.396G>A	ENSP00000509200.1:p.Leu132=
ENST00000294309.8:c.1539G>A MANE Select	ENSP00000294309.3:p.Leu513=
ENST00000635811.1:c.1539G>A	ENSP00000490341.1:p.Leu513=
ENST00000637084.1:c.396G>A	ENSP00000490615.1:p.Leu132=
ENST00000637342.1:c.1539G>A	ENSP00000490171.1:p.Leu513=
ENST00000637504.1:c.1539G>A	ENSP00000489759.1:p.Leu513=
ENST00000294309.7:c.1539G>A	ENSP00000294309.3:p.Leu513=
ENST00000442692.2:n.1132G>A
ENST00000535009.5:n.1348G>A
ENST00000542467.1:c.1539G>A	ENSP00000445551.1:p.Leu513=
NM_139075.3:c.1539G>A	NP_620714.2:p.Leu513=
XM_005273824.2:c.1536G>A	XP_005273881.1:p.Leu512=
XM_005273826.2:c.1284G>A	XP_005273883.1:p.Leu428=
XM_005273827.2:c.1539G>A	XP_005273884.1:p.Leu513=
XM_005273828.2:c.1539G>A	XP_005273885.1:p.Leu513=
XM_005273830.2:c.846G>A	XP_005273887.1:p.Leu282=
XM_005273831.2:c.846G>A	XP_005273888.1:p.Leu282=
XM_005273832.2:c.816G>A	XP_005273889.1:p.Leu272=
XM_006718453.2:c.1539G>A	XP_006718516.1:p.Leu513=
XM_006718454.2:c.1539G>A	XP_006718517.1:p.Leu513=
XM_006718456.2:c.1539G>A	XP_006718519.1:p.Leu513=
XM_011544802.1:c.1299G>A	XP_011543104.1:p.Leu433=
XM_011544803.1:c.1539G>A	XP_011543105.1:p.Leu513=
XM_011544804.1:c.1539G>A	XP_011543106.1:p.Leu513=
XM_011544805.1:c.1539G>A	XP_011543107.1:p.Leu513=
XM_011544806.1:c.1539G>A	XP_011543108.1:p.Leu513=
XM_011544807.1:c.843G>A	XP_011543109.1:p.Leu281=
XM_011544808.1:c.708G>A	XP_011543110.1:p.Leu236=
XR_247191.1:n.1640G>A
XM_005273824.4:c.1536G>A	XP_005273881.1:p.Leu512=
XM_005273826.4:c.1284G>A	XP_005273883.1:p.Leu428=
XM_005273830.4:c.846G>A	XP_005273887.1:p.Leu282=
XM_005273831.4:c.846G>A	XP_005273888.1:p.Leu282=
XM_005273832.4:c.816G>A	XP_005273889.1:p.Leu272=
XM_011544802.3:c.1299G>A	XP_011543104.1:p.Leu433=
XM_011544807.3:c.843G>A	XP_011543109.1:p.Leu281=
XM_011544808.3:c.708G>A	XP_011543110.1:p.Leu236=
XM_017017328.2:c.1370G>A	XP_016872817.1:p.Trp457Ter
XM_017017329.2:c.1367G>A	XP_016872818.1:p.Trp456Ter
XM_017017330.2:c.816G>A	XP_016872819.1:p.Leu272=
XM_017017331.2:c.816G>A	XP_016872820.1:p.Leu272=
XM_017017332.2:c.630G>A	XP_016872821.1:p.Leu210=
XM_017017333.2:c.647G>A	XP_016872822.1:p.Trp216Ter
XM_017017334.2:c.647G>A	XP_016872823.1:p.Trp216Ter
XM_017017335.2:c.647G>A	XP_016872824.1:p.Trp216Ter
XM_017017336.2:c.539G>A	XP_016872825.1:p.Trp180Ter
XM_024448392.1:c.1329G>A	XP_024304160.1:p.Leu443=
XM_024448393.1:c.816G>A	XP_024304161.1:p.Leu272=
XR_001747789.2:n.1471G>A
XR_001747790.2:n.1471G>A
XR_247191.3:n.1643G>A
NM_139075.4:c.1539G>A MANE Select	NP_620714.2:p.Leu513=