Canonical Allele Identifier: CA475209877

Gene: TPCN2

Linked Data

• gnomAD v4: 11-69078909-C-T
• MyVariant Identifiers: chr11:g.68846377C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078909C>T , CM000673.2:g.69078909C>T	GRCh38
NC_000011.9:g.68846377C>T , CM000673.1:g.68846377C>T	GRCh37
NC_000011.8:g.68602953C>T	NCBI36
NG_016153.1:g.35028C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.285C>T	ENSP00000509200.1:p.Phe95=
ENST00000294309.8:c.1428C>T MANE Select	ENSP00000294309.3:p.Phe476=
ENST00000635811.1:c.1428C>T	ENSP00000490341.1:p.Phe476=
ENST00000637084.1:c.285C>T	ENSP00000490615.1:p.Phe95=
ENST00000637342.1:c.1428C>T	ENSP00000490171.1:p.Phe476=
ENST00000637504.1:c.1428C>T	ENSP00000489759.1:p.Phe476=
ENST00000294309.7:c.1428C>T	ENSP00000294309.3:p.Phe476=
ENST00000442692.2:n.1021C>T
ENST00000535009.5:n.1237C>T
ENST00000542467.1:c.1428C>T	ENSP00000445551.1:p.Phe476=
NM_139075.3:c.1428C>T	NP_620714.2:p.Phe476=
XM_005273824.2:c.1425C>T	XP_005273881.1:p.Phe475=
XM_005273826.2:c.1173C>T	XP_005273883.1:p.Phe391=
XM_005273827.2:c.1428C>T	XP_005273884.1:p.Phe476=
XM_005273828.2:c.1428C>T	XP_005273885.1:p.Phe476=
XM_005273830.2:c.735C>T	XP_005273887.1:p.Phe245=
XM_005273831.2:c.735C>T	XP_005273888.1:p.Phe245=
XM_005273832.2:c.705C>T	XP_005273889.1:p.Phe235=
XM_006718453.2:c.1428C>T	XP_006718516.1:p.Phe476=
XM_006718454.2:c.1428C>T	XP_006718517.1:p.Phe476=
XM_006718456.2:c.1428C>T	XP_006718519.1:p.Phe476=
XM_011544802.1:c.1188C>T	XP_011543104.1:p.Phe396=
XM_011544803.1:c.1428C>T	XP_011543105.1:p.Phe476=
XM_011544804.1:c.1428C>T	XP_011543106.1:p.Phe476=
XM_011544805.1:c.1428C>T	XP_011543107.1:p.Phe476=
XM_011544806.1:c.1428C>T	XP_011543108.1:p.Phe476=
XM_011544807.1:c.732C>T	XP_011543109.1:p.Phe244=
XM_011544808.1:c.597C>T	XP_011543110.1:p.Phe199=
XR_247191.1:n.1529C>T
XM_005273824.4:c.1425C>T	XP_005273881.1:p.Phe475=
XM_005273826.4:c.1173C>T	XP_005273883.1:p.Phe391=
XM_005273830.4:c.735C>T	XP_005273887.1:p.Phe245=
XM_005273831.4:c.735C>T	XP_005273888.1:p.Phe245=
XM_005273832.4:c.705C>T	XP_005273889.1:p.Phe235=
XM_011544802.3:c.1188C>T	XP_011543104.1:p.Phe396=
XM_011544807.3:c.732C>T	XP_011543109.1:p.Phe244=
XM_011544808.3:c.597C>T	XP_011543110.1:p.Phe199=
XM_017017328.2:c.1259C>T	XP_016872817.1:p.Ser420Leu
XM_017017329.2:c.1256C>T	XP_016872818.1:p.Ser419Leu
XM_017017330.2:c.705C>T	XP_016872819.1:p.Phe235=
XM_017017331.2:c.705C>T	XP_016872820.1:p.Phe235=
XM_017017332.2:c.519C>T	XP_016872821.1:p.Phe173=
XM_017017333.2:c.536C>T	XP_016872822.1:p.Ser179Leu
XM_017017334.2:c.536C>T	XP_016872823.1:p.Ser179Leu
XM_017017335.2:c.536C>T	XP_016872824.1:p.Ser179Leu
XM_017017336.2:c.428C>T	XP_016872825.1:p.Ser143Leu
XM_024448392.1:c.1218C>T	XP_024304160.1:p.Phe406=
XM_024448393.1:c.705C>T	XP_024304161.1:p.Phe235=
XR_001747789.2:n.1360C>T
XR_001747790.2:n.1360C>T
XR_247191.3:n.1532C>T
NM_139075.4:c.1428C>T MANE Select	NP_620714.2:p.Phe476=