Canonical Allele Identifier: CA381656202

Gene: TPCN2

Linked Data

• COSMIC: COSM298402
• MyVariant Identifiers: chr11:g.68846395G>T (hg19) ; chr11:g.69078927G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078927G>T , CM000673.2:g.69078927G>T	GRCh38
NC_000011.9:g.68846395G>T , CM000673.1:g.68846395G>T	GRCh37
NC_000011.8:g.68602971G>T	NCBI36
NG_016153.1:g.35046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.303G>T	ENSP00000509200.1:p.Leu101Phe
ENST00000294309.8:c.1446G>T MANE Select	ENSP00000294309.3:p.Leu482Phe
ENST00000635811.1:c.1446G>T	ENSP00000490341.1:p.Leu482Phe
ENST00000637084.1:c.303G>T	ENSP00000490615.1:p.Leu101Phe
ENST00000637342.1:c.1446G>T	ENSP00000490171.1:p.Leu482Phe
ENST00000637504.1:c.1446G>T	ENSP00000489759.1:p.Leu482Phe
ENST00000294309.7:c.1446G>T	ENSP00000294309.3:p.Leu482Phe
ENST00000442692.2:n.1039G>T
ENST00000535009.5:n.1255G>T
ENST00000542467.1:c.1446G>T	ENSP00000445551.1:p.Leu482Phe
NM_139075.3:c.1446G>T	NP_620714.2:p.Leu482Phe
XM_005273824.2:c.1443G>T	XP_005273881.1:p.Leu481Phe
XM_005273826.2:c.1191G>T	XP_005273883.1:p.Leu397Phe
XM_005273827.2:c.1446G>T	XP_005273884.1:p.Leu482Phe
XM_005273828.2:c.1446G>T	XP_005273885.1:p.Leu482Phe
XM_005273830.2:c.753G>T	XP_005273887.1:p.Leu251Phe
XM_005273831.2:c.753G>T	XP_005273888.1:p.Leu251Phe
XM_005273832.2:c.723G>T	XP_005273889.1:p.Leu241Phe
XM_006718453.2:c.1446G>T	XP_006718516.1:p.Leu482Phe
XM_006718454.2:c.1446G>T	XP_006718517.1:p.Leu482Phe
XM_006718456.2:c.1446G>T	XP_006718519.1:p.Leu482Phe
XM_011544802.1:c.1206G>T	XP_011543104.1:p.Leu402Phe
XM_011544803.1:c.1446G>T	XP_011543105.1:p.Leu482Phe
XM_011544804.1:c.1446G>T	XP_011543106.1:p.Leu482Phe
XM_011544805.1:c.1446G>T	XP_011543107.1:p.Leu482Phe
XM_011544806.1:c.1446G>T	XP_011543108.1:p.Leu482Phe
XM_011544807.1:c.750G>T	XP_011543109.1:p.Leu250Phe
XM_011544808.1:c.615G>T	XP_011543110.1:p.Leu205Phe
XR_247191.1:n.1547G>T
XM_005273824.4:c.1443G>T	XP_005273881.1:p.Leu481Phe
XM_005273826.4:c.1191G>T	XP_005273883.1:p.Leu397Phe
XM_005273830.4:c.753G>T	XP_005273887.1:p.Leu251Phe
XM_005273831.4:c.753G>T	XP_005273888.1:p.Leu251Phe
XM_005273832.4:c.723G>T	XP_005273889.1:p.Leu241Phe
XM_011544802.3:c.1206G>T	XP_011543104.1:p.Leu402Phe
XM_011544807.3:c.750G>T	XP_011543109.1:p.Leu250Phe
XM_011544808.3:c.615G>T	XP_011543110.1:p.Leu205Phe
XM_017017328.2:c.1277G>T	XP_016872817.1:p.Trp426Leu
XM_017017329.2:c.1274G>T	XP_016872818.1:p.Trp425Leu
XM_017017330.2:c.723G>T	XP_016872819.1:p.Leu241Phe
XM_017017331.2:c.723G>T	XP_016872820.1:p.Leu241Phe
XM_017017332.2:c.537G>T	XP_016872821.1:p.Leu179Phe
XM_017017333.2:c.554G>T	XP_016872822.1:p.Trp185Leu
XM_017017334.2:c.554G>T	XP_016872823.1:p.Trp185Leu
XM_017017335.2:c.554G>T	XP_016872824.1:p.Trp185Leu
XM_017017336.2:c.446G>T	XP_016872825.1:p.Trp149Leu
XM_024448392.1:c.1236G>T	XP_024304160.1:p.Leu412Phe
XM_024448393.1:c.723G>T	XP_024304161.1:p.Leu241Phe
XR_001747789.2:n.1378G>T
XR_001747790.2:n.1378G>T
XR_247191.3:n.1550G>T
NM_139075.4:c.1446G>T MANE Select	NP_620714.2:p.Leu482Phe