Canonical Allele Identifier: CA475209815

Gene: TPCN2

Linked Data

• MyVariant Identifiers: chr11:g.68846057G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078589G>T , CM000673.2:g.69078589G>T	GRCh38
NC_000011.9:g.68846057G>T , CM000673.1:g.68846057G>T	GRCh37
NC_000011.8:g.68602633G>T	NCBI36
NG_016153.1:g.34708G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.195G>T	ENSP00000509200.1:p.Leu65=
ENST00000294309.8:c.1338G>T MANE Select	ENSP00000294309.3:p.Leu446=
ENST00000635811.1:c.1338G>T	ENSP00000490341.1:p.Leu446=
ENST00000637084.1:c.195G>T	ENSP00000490615.1:p.Leu65=
ENST00000637342.1:c.1338G>T	ENSP00000490171.1:p.Leu446=
ENST00000637504.1:c.1338G>T	ENSP00000489759.1:p.Leu446=
ENST00000294309.7:c.1338G>T	ENSP00000294309.3:p.Leu446=
ENST00000442692.2:n.931G>T
ENST00000535009.5:n.1147G>T
ENST00000542467.1:c.1338G>T	ENSP00000445551.1:p.Leu446=
NM_139075.3:c.1338G>T	NP_620714.2:p.Leu446=
XM_005273824.2:c.1335G>T	XP_005273881.1:p.Leu445=
XM_005273826.2:c.1083G>T	XP_005273883.1:p.Leu361=
XM_005273827.2:c.1338G>T	XP_005273884.1:p.Leu446=
XM_005273828.2:c.1338G>T	XP_005273885.1:p.Leu446=
XM_005273830.2:c.645G>T	XP_005273887.1:p.Leu215=
XM_005273831.2:c.645G>T	XP_005273888.1:p.Leu215=
XM_005273832.2:c.615G>T	XP_005273889.1:p.Leu205=
XM_006718453.2:c.1338G>T	XP_006718516.1:p.Leu446=
XM_006718454.2:c.1338G>T	XP_006718517.1:p.Leu446=
XM_006718456.2:c.1338G>T	XP_006718519.1:p.Leu446=
XM_011544802.1:c.1098G>T	XP_011543104.1:p.Leu366=
XM_011544803.1:c.1338G>T	XP_011543105.1:p.Leu446=
XM_011544804.1:c.1338G>T	XP_011543106.1:p.Leu446=
XM_011544805.1:c.1338G>T	XP_011543107.1:p.Leu446=
XM_011544806.1:c.1338G>T	XP_011543108.1:p.Leu446=
XM_011544807.1:c.642G>T	XP_011543109.1:p.Leu214=
XM_011544808.1:c.507G>T	XP_011543110.1:p.Leu169=
XR_247191.1:n.1439G>T
XM_005273824.4:c.1335G>T	XP_005273881.1:p.Leu445=
XM_005273826.4:c.1083G>T	XP_005273883.1:p.Leu361=
XM_005273830.4:c.645G>T	XP_005273887.1:p.Leu215=
XM_005273831.4:c.645G>T	XP_005273888.1:p.Leu215=
XM_005273832.4:c.615G>T	XP_005273889.1:p.Leu205=
XM_011544802.3:c.1098G>T	XP_011543104.1:p.Leu366=
XM_011544807.3:c.642G>T	XP_011543109.1:p.Leu214=
XM_011544808.3:c.507G>T	XP_011543110.1:p.Leu169=
XM_017017328.2:c.1169G>T	XP_016872817.1:p.Trp390Leu
XM_017017329.2:c.1166G>T	XP_016872818.1:p.Trp389Leu
XM_017017330.2:c.615G>T	XP_016872819.1:p.Leu205=
XM_017017331.2:c.615G>T	XP_016872820.1:p.Leu205=
XM_017017332.2:c.429G>T	XP_016872821.1:p.Leu143=
XM_017017333.2:c.446G>T	XP_016872822.1:p.Trp149Leu
XM_017017334.2:c.446G>T	XP_016872823.1:p.Trp149Leu
XM_017017335.2:c.446G>T	XP_016872824.1:p.Trp149Leu
XM_017017336.2:c.338G>T	XP_016872825.1:p.Trp113Leu
XM_024448392.1:c.1128G>T	XP_024304160.1:p.Leu376=
XM_024448393.1:c.615G>T	XP_024304161.1:p.Leu205=
XR_001747789.2:n.1270G>T
XR_001747790.2:n.1270G>T
XR_247191.3:n.1442G>T
NM_139075.4:c.1338G>T MANE Select	NP_620714.2:p.Leu446=