Canonical Allele Identifier: CA6155249

Gene: TPCN2

Linked Data

• dbSNP Id: rs767835942
• ExAC: 11:68846260 G / A
• gnomAD v2: 11-68846260-G-A
• gnomAD v4: 11-69078792-G-A
• MyVariant Identifiers: chr11:g.68846260G>A (hg19) ; chr11:g.69078792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078792G>A , CM000673.2:g.69078792G>A	GRCh38
NC_000011.9:g.68846260G>A , CM000673.1:g.68846260G>A	GRCh37
NC_000011.8:g.68602836G>A	NCBI36
NG_016153.1:g.34911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.266G>A	ENSP00000509200.1:p.Gly89Glu
ENST00000294309.8:c.1409G>A MANE Select	ENSP00000294309.3:p.Gly470Glu
ENST00000635811.1:c.1409G>A	ENSP00000490341.1:p.Gly470Glu
ENST00000637084.1:c.266G>A	ENSP00000490615.1:p.Gly89Glu
ENST00000637342.1:c.1409G>A	ENSP00000490171.1:p.Gly470Glu
ENST00000637504.1:c.1409G>A	ENSP00000489759.1:p.Gly470Glu
ENST00000294309.7:c.1409G>A	ENSP00000294309.3:p.Gly470Glu
ENST00000442692.2:n.1002G>A
ENST00000535009.5:n.1218G>A
ENST00000542467.1:c.1409G>A	ENSP00000445551.1:p.Gly470Glu
NM_139075.3:c.1409G>A	NP_620714.2:p.Gly470Glu
XM_005273824.2:c.1406G>A	XP_005273881.1:p.Gly469Glu
XM_005273826.2:c.1154G>A	XP_005273883.1:p.Gly385Glu
XM_005273827.2:c.1409G>A	XP_005273884.1:p.Gly470Glu
XM_005273828.2:c.1409G>A	XP_005273885.1:p.Gly470Glu
XM_005273830.2:c.716G>A	XP_005273887.1:p.Gly239Glu
XM_005273831.2:c.716G>A	XP_005273888.1:p.Gly239Glu
XM_005273832.2:c.686G>A	XP_005273889.1:p.Gly229Glu
XM_006718453.2:c.1409G>A	XP_006718516.1:p.Gly470Glu
XM_006718454.2:c.1409G>A	XP_006718517.1:p.Gly470Glu
XM_006718456.2:c.1409G>A	XP_006718519.1:p.Gly470Glu
XM_011544802.1:c.1169G>A	XP_011543104.1:p.Gly390Glu
XM_011544803.1:c.1409G>A	XP_011543105.1:p.Gly470Glu
XM_011544804.1:c.1409G>A	XP_011543106.1:p.Gly470Glu
XM_011544805.1:c.1409G>A	XP_011543107.1:p.Gly470Glu
XM_011544806.1:c.1409G>A	XP_011543108.1:p.Gly470Glu
XM_011544807.1:c.713G>A	XP_011543109.1:p.Gly238Glu
XM_011544808.1:c.578G>A	XP_011543110.1:p.Gly193Glu
XR_247191.1:n.1510G>A
XM_005273824.4:c.1406G>A	XP_005273881.1:p.Gly469Glu
XM_005273826.4:c.1154G>A	XP_005273883.1:p.Gly385Glu
XM_005273830.4:c.716G>A	XP_005273887.1:p.Gly239Glu
XM_005273831.4:c.716G>A	XP_005273888.1:p.Gly239Glu
XM_005273832.4:c.686G>A	XP_005273889.1:p.Gly229Glu
XM_011544802.3:c.1169G>A	XP_011543104.1:p.Gly390Glu
XM_011544807.3:c.713G>A	XP_011543109.1:p.Gly238Glu
XM_011544808.3:c.578G>A	XP_011543110.1:p.Gly193Glu
XM_017017328.2:c.1240G>A	XP_016872817.1:p.Gly414Arg
XM_017017329.2:c.1237G>A	XP_016872818.1:p.Gly413Arg
XM_017017330.2:c.686G>A	XP_016872819.1:p.Gly229Glu
XM_017017331.2:c.686G>A	XP_016872820.1:p.Gly229Glu
XM_017017332.2:c.500G>A	XP_016872821.1:p.Gly167Glu
XM_017017333.2:c.517G>A	XP_016872822.1:p.Gly173Arg
XM_017017334.2:c.517G>A	XP_016872823.1:p.Gly173Arg
XM_017017335.2:c.517G>A	XP_016872824.1:p.Gly173Arg
XM_017017336.2:c.409G>A	XP_016872825.1:p.Gly137Arg
XM_024448392.1:c.1199G>A	XP_024304160.1:p.Gly400Glu
XM_024448393.1:c.686G>A	XP_024304161.1:p.Gly229Glu
XR_001747789.2:n.1341G>A
XR_001747790.2:n.1341G>A
XR_247191.3:n.1513G>A
NM_139075.4:c.1409G>A MANE Select	NP_620714.2:p.Gly470Glu