Canonical Allele Identifier: CA6155278

Gene: TPCN2

Linked Data

• dbSNP Id: rs781066077
• ExAC: 11:68846411 G / T
• gnomAD v2: 11-68846411-G-T
• gnomAD v4: 11-69078943-G-T
• MyVariant Identifiers: chr11:g.68846411G>T (hg19) ; chr11:g.69078943G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078943G>T , CM000673.2:g.69078943G>T	GRCh38
NC_000011.9:g.68846411G>T , CM000673.1:g.68846411G>T	GRCh37
NC_000011.8:g.68602987G>T	NCBI36
NG_016153.1:g.35062G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000692585.1:c.319G>T	ENSP00000509200.1:p.Val107Phe
ENST00000294309.8:c.1462G>T MANE Select	ENSP00000294309.3:p.Val488Phe
ENST00000635811.1:c.1462G>T	ENSP00000490341.1:p.Val488Phe
ENST00000637084.1:c.319G>T	ENSP00000490615.1:p.Val107Phe
ENST00000637342.1:c.1462G>T	ENSP00000490171.1:p.Val488Phe
ENST00000637504.1:c.1462G>T	ENSP00000489759.1:p.Val488Phe
ENST00000294309.7:c.1462G>T	ENSP00000294309.3:p.Val488Phe
ENST00000442692.2:n.1055G>T
ENST00000535009.5:n.1271G>T
ENST00000542467.1:c.1462G>T	ENSP00000445551.1:p.Val488Phe
NM_139075.3:c.1462G>T	NP_620714.2:p.Val488Phe
XM_005273824.2:c.1459G>T	XP_005273881.1:p.Val487Phe
XM_005273826.2:c.1207G>T	XP_005273883.1:p.Val403Phe
XM_005273827.2:c.1462G>T	XP_005273884.1:p.Val488Phe
XM_005273828.2:c.1462G>T	XP_005273885.1:p.Val488Phe
XM_005273830.2:c.769G>T	XP_005273887.1:p.Val257Phe
XM_005273831.2:c.769G>T	XP_005273888.1:p.Val257Phe
XM_005273832.2:c.739G>T	XP_005273889.1:p.Val247Phe
XM_006718453.2:c.1462G>T	XP_006718516.1:p.Val488Phe
XM_006718454.2:c.1462G>T	XP_006718517.1:p.Val488Phe
XM_006718456.2:c.1462G>T	XP_006718519.1:p.Val488Phe
XM_011544802.1:c.1222G>T	XP_011543104.1:p.Val408Phe
XM_011544803.1:c.1462G>T	XP_011543105.1:p.Val488Phe
XM_011544804.1:c.1462G>T	XP_011543106.1:p.Val488Phe
XM_011544805.1:c.1462G>T	XP_011543107.1:p.Val488Phe
XM_011544806.1:c.1462G>T	XP_011543108.1:p.Val488Phe
XM_011544807.1:c.766G>T	XP_011543109.1:p.Val256Phe
XM_011544808.1:c.631G>T	XP_011543110.1:p.Val211Phe
XR_247191.1:n.1563G>T
XM_005273824.4:c.1459G>T	XP_005273881.1:p.Val487Phe
XM_005273826.4:c.1207G>T	XP_005273883.1:p.Val403Phe
XM_005273830.4:c.769G>T	XP_005273887.1:p.Val257Phe
XM_005273831.4:c.769G>T	XP_005273888.1:p.Val257Phe
XM_005273832.4:c.739G>T	XP_005273889.1:p.Val247Phe
XM_011544802.3:c.1222G>T	XP_011543104.1:p.Val408Phe
XM_011544807.3:c.766G>T	XP_011543109.1:p.Val256Phe
XM_011544808.3:c.631G>T	XP_011543110.1:p.Val211Phe
XM_017017328.2:c.1293G>T	XP_016872817.1:p.Arg431Ser
XM_017017329.2:c.1290G>T	XP_016872818.1:p.Arg430Ser
XM_017017330.2:c.739G>T	XP_016872819.1:p.Val247Phe
XM_017017331.2:c.739G>T	XP_016872820.1:p.Val247Phe
XM_017017332.2:c.553G>T	XP_016872821.1:p.Val185Phe
XM_017017333.2:c.570G>T	XP_016872822.1:p.Arg190Ser
XM_017017334.2:c.570G>T	XP_016872823.1:p.Arg190Ser
XM_017017335.2:c.570G>T	XP_016872824.1:p.Arg190Ser
XM_017017336.2:c.462G>T	XP_016872825.1:p.Arg154Ser
XM_024448392.1:c.1252G>T	XP_024304160.1:p.Val418Phe
XM_024448393.1:c.739G>T	XP_024304161.1:p.Val247Phe
XR_001747789.2:n.1394G>T
XR_001747790.2:n.1394G>T
XR_247191.3:n.1566G>T
NM_139075.4:c.1462G>T MANE Select	NP_620714.2:p.Val488Phe