Canonical Allele Identifier: CA381656417

Gene: TPCN2

Linked Data

• dbSNP Id: rs1855899302
• gnomAD v4: 11-69078974-C-T
• MyVariant Identifiers: chr11:g.68846442C>T (hg19) ; chr11:g.69078974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078974C>T , CM000673.2:g.69078974C>T	GRCh38
NC_000011.9:g.68846442C>T , CM000673.1:g.68846442C>T	GRCh37
NC_000011.8:g.68603018C>T	NCBI36
NG_016153.1:g.35093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.350C>T	ENSP00000509200.1:p.Ser117Phe
ENST00000294309.8:c.1493C>T MANE Select	ENSP00000294309.3:p.Ser498Phe
ENST00000635811.1:c.1493C>T	ENSP00000490341.1:p.Ser498Phe
ENST00000637084.1:c.350C>T	ENSP00000490615.1:p.Ser117Phe
ENST00000637342.1:c.1493C>T	ENSP00000490171.1:p.Ser498Phe
ENST00000637504.1:c.1493C>T	ENSP00000489759.1:p.Ser498Phe
ENST00000294309.7:c.1493C>T	ENSP00000294309.3:p.Ser498Phe
ENST00000442692.2:n.1086C>T
ENST00000535009.5:n.1302C>T
ENST00000542467.1:c.1493C>T	ENSP00000445551.1:p.Ser498Phe
NM_139075.3:c.1493C>T	NP_620714.2:p.Ser498Phe
XM_005273824.2:c.1490C>T	XP_005273881.1:p.Ser497Phe
XM_005273826.2:c.1238C>T	XP_005273883.1:p.Ser413Phe
XM_005273827.2:c.1493C>T	XP_005273884.1:p.Ser498Phe
XM_005273828.2:c.1493C>T	XP_005273885.1:p.Ser498Phe
XM_005273830.2:c.800C>T	XP_005273887.1:p.Ser267Phe
XM_005273831.2:c.800C>T	XP_005273888.1:p.Ser267Phe
XM_005273832.2:c.770C>T	XP_005273889.1:p.Ser257Phe
XM_006718453.2:c.1493C>T	XP_006718516.1:p.Ser498Phe
XM_006718454.2:c.1493C>T	XP_006718517.1:p.Ser498Phe
XM_006718456.2:c.1493C>T	XP_006718519.1:p.Ser498Phe
XM_011544802.1:c.1253C>T	XP_011543104.1:p.Ser418Phe
XM_011544803.1:c.1493C>T	XP_011543105.1:p.Ser498Phe
XM_011544804.1:c.1493C>T	XP_011543106.1:p.Ser498Phe
XM_011544805.1:c.1493C>T	XP_011543107.1:p.Ser498Phe
XM_011544806.1:c.1493C>T	XP_011543108.1:p.Ser498Phe
XM_011544807.1:c.797C>T	XP_011543109.1:p.Ser266Phe
XM_011544808.1:c.662C>T	XP_011543110.1:p.Ser221Phe
XR_247191.1:n.1594C>T
XM_005273824.4:c.1490C>T	XP_005273881.1:p.Ser497Phe
XM_005273826.4:c.1238C>T	XP_005273883.1:p.Ser413Phe
XM_005273830.4:c.800C>T	XP_005273887.1:p.Ser267Phe
XM_005273831.4:c.800C>T	XP_005273888.1:p.Ser267Phe
XM_005273832.4:c.770C>T	XP_005273889.1:p.Ser257Phe
XM_011544802.3:c.1253C>T	XP_011543104.1:p.Ser418Phe
XM_011544807.3:c.797C>T	XP_011543109.1:p.Ser266Phe
XM_011544808.3:c.662C>T	XP_011543110.1:p.Ser221Phe
XM_017017328.2:c.1324C>T	XP_016872817.1:p.Pro442Ser
XM_017017329.2:c.1321C>T	XP_016872818.1:p.Pro441Ser
XM_017017330.2:c.770C>T	XP_016872819.1:p.Ser257Phe
XM_017017331.2:c.770C>T	XP_016872820.1:p.Ser257Phe
XM_017017332.2:c.584C>T	XP_016872821.1:p.Ser195Phe
XM_017017333.2:c.601C>T	XP_016872822.1:p.Pro201Ser
XM_017017334.2:c.601C>T	XP_016872823.1:p.Pro201Ser
XM_017017335.2:c.601C>T	XP_016872824.1:p.Pro201Ser
XM_017017336.2:c.493C>T	XP_016872825.1:p.Pro165Ser
XM_024448392.1:c.1283C>T	XP_024304160.1:p.Ser428Phe
XM_024448393.1:c.770C>T	XP_024304161.1:p.Ser257Phe
XR_001747789.2:n.1425C>T
XR_001747790.2:n.1425C>T
XR_247191.3:n.1597C>T
NM_139075.4:c.1493C>T MANE Select	NP_620714.2:p.Ser498Phe