Canonical Allele Identifier: CA381652181

Gene: TPCN2

Linked Data

• MyVariant Identifiers: chr11:g.68855389A>T (hg19) ; chr11:g.69087921A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087921A>T , CM000673.2:g.69087921A>T	GRCh38
NC_000011.9:g.68855389A>T , CM000673.1:g.68855389A>T	GRCh37
NC_000011.8:g.68611965A>T	NCBI36
NG_016153.1:g.44040A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.1084A>T	ENSP00000509200.1:p.Ser362Cys
ENST00000294309.8:c.2227A>T MANE Select	ENSP00000294309.3:p.Ser743Cys
ENST00000635811.1:c.*422A>T	ENSP00000490341.1:n.*422A>T
ENST00000637084.1:c.1084A>T	ENSP00000490615.1:p.Ser362Cys
ENST00000637342.1:c.2003+1991A>T	ENSP00000490171.1:n.2003+1991A>T
ENST00000637504.1:c.*33+2635A>T	ENSP00000489759.1:n.*33+2635A>T
ENST00000294309.7:c.2227A>T	ENSP00000294309.3:p.Ser743Cys
ENST00000442692.2:n.1693A>T
ENST00000542467.1:c.1681A>T	ENSP00000445551.1:p.Ser561Cys
NM_139075.3:c.2227A>T	NP_620714.2:p.Ser743Cys
XM_005273824.2:c.2224A>T	XP_005273881.1:p.Ser742Cys
XM_005273826.2:c.1972A>T	XP_005273883.1:p.Ser658Cys
XM_005273830.2:c.1534A>T	XP_005273887.1:p.Ser512Cys
XM_005273831.2:c.1534A>T	XP_005273888.1:p.Ser512Cys
XM_005273832.2:c.1504A>T	XP_005273889.1:p.Ser502Cys
XM_006718453.2:c.1639+6422A>T	XP_006718516.1:n.1639+6422A>T
XM_006718454.2:c.1689+6422A>T	XP_006718517.1:n.1689+6422A>T
XM_011544802.1:c.1987A>T	XP_011543104.1:p.Ser663Cys
XM_011544807.1:c.1531A>T	XP_011543109.1:p.Ser511Cys
XM_011544808.1:c.1396A>T	XP_011543110.1:p.Ser466Cys
XM_005273824.4:c.2224A>T	XP_005273881.1:p.Ser742Cys
XM_005273826.4:c.1972A>T	XP_005273883.1:p.Ser658Cys
XM_005273830.4:c.1534A>T	XP_005273887.1:p.Ser512Cys
XM_005273831.4:c.1534A>T	XP_005273888.1:p.Ser512Cys
XM_005273832.4:c.1504A>T	XP_005273889.1:p.Ser502Cys
XM_011544802.3:c.1987A>T	XP_011543104.1:p.Ser663Cys
XM_011544807.3:c.1531A>T	XP_011543109.1:p.Ser511Cys
XM_011544808.3:c.1396A>T	XP_011543110.1:p.Ser466Cys
XM_017017328.2:c.2008A>T	XP_016872817.1:p.Ser670Cys
XM_017017329.2:c.2005A>T	XP_016872818.1:p.Ser669Cys
XM_017017330.2:c.1504A>T	XP_016872819.1:p.Ser502Cys
XM_017017331.2:c.1504A>T	XP_016872820.1:p.Ser502Cys
XM_017017332.2:c.1318A>T	XP_016872821.1:p.Ser440Cys
XM_017017333.2:c.1285A>T	XP_016872822.1:p.Ser429Cys
XM_017017334.2:c.1285A>T	XP_016872823.1:p.Ser429Cys
XM_017017335.2:c.1285A>T	XP_016872824.1:p.Ser429Cys
XM_017017336.2:c.1177A>T	XP_016872825.1:p.Ser393Cys
XM_024448392.1:c.2017A>T	XP_024304160.1:p.Ser673Cys
XM_024448393.1:c.1504A>T	XP_024304161.1:p.Ser502Cys
XR_001747789.2:n.2159A>T
XR_247191.3:n.2281A>T
NM_139075.4:c.2227A>T MANE Select	NP_620714.2:p.Ser743Cys