Canonical Allele Identifier: CA6155267

Gene: TPCN2

Linked Data

• dbSNP Id: rs376512796
• ExAC: 11:68846365 C / T
• gnomAD v2: 11-68846365-C-T
• gnomAD v3: 11-69078897-C-T
• gnomAD v4: 11-69078897-C-T
• MyVariant Identifiers: chr11:g.68846365C>T (hg19) ; chr11:g.69078897C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078897C>T , CM000673.2:g.69078897C>T	GRCh38
NC_000011.9:g.68846365C>T , CM000673.1:g.68846365C>T	GRCh37
NC_000011.8:g.68602941C>T	NCBI36
NG_016153.1:g.35016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.273C>T	ENSP00000509200.1:p.Leu91=
ENST00000294309.8:c.1416C>T MANE Select	ENSP00000294309.3:p.Leu472=
ENST00000635811.1:c.1416C>T	ENSP00000490341.1:p.Leu472=
ENST00000637084.1:c.273C>T	ENSP00000490615.1:p.Leu91=
ENST00000637342.1:c.1416C>T	ENSP00000490171.1:p.Leu472=
ENST00000637504.1:c.1416C>T	ENSP00000489759.1:p.Leu472=
ENST00000294309.7:c.1416C>T	ENSP00000294309.3:p.Leu472=
ENST00000442692.2:n.1009C>T
ENST00000535009.5:n.1225C>T
ENST00000542467.1:c.1416C>T	ENSP00000445551.1:p.Leu472=
NM_139075.3:c.1416C>T	NP_620714.2:p.Leu472=
XM_005273824.2:c.1413C>T	XP_005273881.1:p.Leu471=
XM_005273826.2:c.1161C>T	XP_005273883.1:p.Leu387=
XM_005273827.2:c.1416C>T	XP_005273884.1:p.Leu472=
XM_005273828.2:c.1416C>T	XP_005273885.1:p.Leu472=
XM_005273830.2:c.723C>T	XP_005273887.1:p.Leu241=
XM_005273831.2:c.723C>T	XP_005273888.1:p.Leu241=
XM_005273832.2:c.693C>T	XP_005273889.1:p.Leu231=
XM_006718453.2:c.1416C>T	XP_006718516.1:p.Leu472=
XM_006718454.2:c.1416C>T	XP_006718517.1:p.Leu472=
XM_006718456.2:c.1416C>T	XP_006718519.1:p.Leu472=
XM_011544802.1:c.1176C>T	XP_011543104.1:p.Leu392=
XM_011544803.1:c.1416C>T	XP_011543105.1:p.Leu472=
XM_011544804.1:c.1416C>T	XP_011543106.1:p.Leu472=
XM_011544805.1:c.1416C>T	XP_011543107.1:p.Leu472=
XM_011544806.1:c.1416C>T	XP_011543108.1:p.Leu472=
XM_011544807.1:c.720C>T	XP_011543109.1:p.Leu240=
XM_011544808.1:c.585C>T	XP_011543110.1:p.Leu195=
XR_247191.1:n.1517C>T
XM_005273824.4:c.1413C>T	XP_005273881.1:p.Leu471=
XM_005273826.4:c.1161C>T	XP_005273883.1:p.Leu387=
XM_005273830.4:c.723C>T	XP_005273887.1:p.Leu241=
XM_005273831.4:c.723C>T	XP_005273888.1:p.Leu241=
XM_005273832.4:c.693C>T	XP_005273889.1:p.Leu231=
XM_011544802.3:c.1176C>T	XP_011543104.1:p.Leu392=
XM_011544807.3:c.720C>T	XP_011543109.1:p.Leu240=
XM_011544808.3:c.585C>T	XP_011543110.1:p.Leu195=
XM_017017328.2:c.1247C>T	XP_016872817.1:p.Ser416Leu
XM_017017329.2:c.1244C>T	XP_016872818.1:p.Ser415Leu
XM_017017330.2:c.693C>T	XP_016872819.1:p.Leu231=
XM_017017331.2:c.693C>T	XP_016872820.1:p.Leu231=
XM_017017332.2:c.507C>T	XP_016872821.1:p.Leu169=
XM_017017333.2:c.524C>T	XP_016872822.1:p.Ser175Leu
XM_017017334.2:c.524C>T	XP_016872823.1:p.Ser175Leu
XM_017017335.2:c.524C>T	XP_016872824.1:p.Ser175Leu
XM_017017336.2:c.416C>T	XP_016872825.1:p.Ser139Leu
XM_024448392.1:c.1206C>T	XP_024304160.1:p.Leu402=
XM_024448393.1:c.693C>T	XP_024304161.1:p.Leu231=
XR_001747789.2:n.1348C>T
XR_001747790.2:n.1348C>T
XR_247191.3:n.1520C>T
NM_139075.4:c.1416C>T MANE Select	NP_620714.2:p.Leu472=