Canonical Allele Identifier: CA223469793

Gene: TPCN2

Linked Data

• dbSNP Id: rs891036362
• gnomAD v4: 11-69079017-G-C
• MyVariant Identifiers: chr11:g.68846485G>C (hg19) ; chr11:g.69079017G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69079017G>C , CM000673.2:g.69079017G>C	GRCh38
NC_000011.9:g.68846485G>C , CM000673.1:g.68846485G>C	GRCh37
NC_000011.8:g.68603061G>C	NCBI36
NG_016153.1:g.35136G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.393G>C	ENSP00000509200.1:p.Leu131=
ENST00000294309.8:c.1536G>C MANE Select	ENSP00000294309.3:p.Leu512=
ENST00000635811.1:c.1536G>C	ENSP00000490341.1:p.Leu512=
ENST00000637084.1:c.393G>C	ENSP00000490615.1:p.Leu131=
ENST00000637342.1:c.1536G>C	ENSP00000490171.1:p.Leu512=
ENST00000637504.1:c.1536G>C	ENSP00000489759.1:p.Leu512=
ENST00000294309.7:c.1536G>C	ENSP00000294309.3:p.Leu512=
ENST00000442692.2:n.1129G>C
ENST00000535009.5:n.1345G>C
ENST00000542467.1:c.1536G>C	ENSP00000445551.1:p.Leu512=
NM_139075.3:c.1536G>C	NP_620714.2:p.Leu512=
XM_005273824.2:c.1533G>C	XP_005273881.1:p.Leu511=
XM_005273826.2:c.1281G>C	XP_005273883.1:p.Leu427=
XM_005273827.2:c.1536G>C	XP_005273884.1:p.Leu512=
XM_005273828.2:c.1536G>C	XP_005273885.1:p.Leu512=
XM_005273830.2:c.843G>C	XP_005273887.1:p.Leu281=
XM_005273831.2:c.843G>C	XP_005273888.1:p.Leu281=
XM_005273832.2:c.813G>C	XP_005273889.1:p.Leu271=
XM_006718453.2:c.1536G>C	XP_006718516.1:p.Leu512=
XM_006718454.2:c.1536G>C	XP_006718517.1:p.Leu512=
XM_006718456.2:c.1536G>C	XP_006718519.1:p.Leu512=
XM_011544802.1:c.1296G>C	XP_011543104.1:p.Leu432=
XM_011544803.1:c.1536G>C	XP_011543105.1:p.Leu512=
XM_011544804.1:c.1536G>C	XP_011543106.1:p.Leu512=
XM_011544805.1:c.1536G>C	XP_011543107.1:p.Leu512=
XM_011544806.1:c.1536G>C	XP_011543108.1:p.Leu512=
XM_011544807.1:c.840G>C	XP_011543109.1:p.Leu280=
XM_011544808.1:c.705G>C	XP_011543110.1:p.Leu235=
XR_247191.1:n.1637G>C
XM_005273824.4:c.1533G>C	XP_005273881.1:p.Leu511=
XM_005273826.4:c.1281G>C	XP_005273883.1:p.Leu427=
XM_005273830.4:c.843G>C	XP_005273887.1:p.Leu281=
XM_005273831.4:c.843G>C	XP_005273888.1:p.Leu281=
XM_005273832.4:c.813G>C	XP_005273889.1:p.Leu271=
XM_011544802.3:c.1296G>C	XP_011543104.1:p.Leu432=
XM_011544807.3:c.840G>C	XP_011543109.1:p.Leu280=
XM_011544808.3:c.705G>C	XP_011543110.1:p.Leu235=
XM_017017328.2:c.1367G>C	XP_016872817.1:p.Cys456Ser
XM_017017329.2:c.1364G>C	XP_016872818.1:p.Cys455Ser
XM_017017330.2:c.813G>C	XP_016872819.1:p.Leu271=
XM_017017331.2:c.813G>C	XP_016872820.1:p.Leu271=
XM_017017332.2:c.627G>C	XP_016872821.1:p.Leu209=
XM_017017333.2:c.644G>C	XP_016872822.1:p.Cys215Ser
XM_017017334.2:c.644G>C	XP_016872823.1:p.Cys215Ser
XM_017017335.2:c.644G>C	XP_016872824.1:p.Cys215Ser
XM_017017336.2:c.536G>C	XP_016872825.1:p.Cys179Ser
XM_024448392.1:c.1326G>C	XP_024304160.1:p.Leu442=
XM_024448393.1:c.813G>C	XP_024304161.1:p.Leu271=
XR_001747789.2:n.1468G>C
XR_001747790.2:n.1468G>C
XR_247191.3:n.1640G>C
NM_139075.4:c.1536G>C MANE Select	NP_620714.2:p.Leu512=