Canonical Allele Identifier: CA381656068

Gene: TPCN2

Linked Data

• dbSNP Id: rs1374667300
• gnomAD v2: 11-68846370-G-A
• gnomAD v3: 11-69078902-G-A
• gnomAD v4: 11-69078902-G-A
• MyVariant Identifiers: chr11:g.68846370G>A (hg19) ; chr11:g.69078902G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078902G>A , CM000673.2:g.69078902G>A	GRCh38
NC_000011.9:g.68846370G>A , CM000673.1:g.68846370G>A	GRCh37
NC_000011.8:g.68602946G>A	NCBI36
NG_016153.1:g.35021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.278G>A	ENSP00000509200.1:p.Cys93Tyr
ENST00000294309.8:c.1421G>A MANE Select	ENSP00000294309.3:p.Cys474Tyr
ENST00000635811.1:c.1421G>A	ENSP00000490341.1:p.Cys474Tyr
ENST00000637084.1:c.278G>A	ENSP00000490615.1:p.Cys93Tyr
ENST00000637342.1:c.1421G>A	ENSP00000490171.1:p.Cys474Tyr
ENST00000637504.1:c.1421G>A	ENSP00000489759.1:p.Cys474Tyr
ENST00000294309.7:c.1421G>A	ENSP00000294309.3:p.Cys474Tyr
ENST00000442692.2:n.1014G>A
ENST00000535009.5:n.1230G>A
ENST00000542467.1:c.1421G>A	ENSP00000445551.1:p.Cys474Tyr
NM_139075.3:c.1421G>A	NP_620714.2:p.Cys474Tyr
XM_005273824.2:c.1418G>A	XP_005273881.1:p.Cys473Tyr
XM_005273826.2:c.1166G>A	XP_005273883.1:p.Cys389Tyr
XM_005273827.2:c.1421G>A	XP_005273884.1:p.Cys474Tyr
XM_005273828.2:c.1421G>A	XP_005273885.1:p.Cys474Tyr
XM_005273830.2:c.728G>A	XP_005273887.1:p.Cys243Tyr
XM_005273831.2:c.728G>A	XP_005273888.1:p.Cys243Tyr
XM_005273832.2:c.698G>A	XP_005273889.1:p.Cys233Tyr
XM_006718453.2:c.1421G>A	XP_006718516.1:p.Cys474Tyr
XM_006718454.2:c.1421G>A	XP_006718517.1:p.Cys474Tyr
XM_006718456.2:c.1421G>A	XP_006718519.1:p.Cys474Tyr
XM_011544802.1:c.1181G>A	XP_011543104.1:p.Cys394Tyr
XM_011544803.1:c.1421G>A	XP_011543105.1:p.Cys474Tyr
XM_011544804.1:c.1421G>A	XP_011543106.1:p.Cys474Tyr
XM_011544805.1:c.1421G>A	XP_011543107.1:p.Cys474Tyr
XM_011544806.1:c.1421G>A	XP_011543108.1:p.Cys474Tyr
XM_011544807.1:c.725G>A	XP_011543109.1:p.Cys242Tyr
XM_011544808.1:c.590G>A	XP_011543110.1:p.Cys197Tyr
XR_247191.1:n.1522G>A
XM_005273824.4:c.1418G>A	XP_005273881.1:p.Cys473Tyr
XM_005273826.4:c.1166G>A	XP_005273883.1:p.Cys389Tyr
XM_005273830.4:c.728G>A	XP_005273887.1:p.Cys243Tyr
XM_005273831.4:c.728G>A	XP_005273888.1:p.Cys243Tyr
XM_005273832.4:c.698G>A	XP_005273889.1:p.Cys233Tyr
XM_011544802.3:c.1181G>A	XP_011543104.1:p.Cys394Tyr
XM_011544807.3:c.725G>A	XP_011543109.1:p.Cys242Tyr
XM_011544808.3:c.590G>A	XP_011543110.1:p.Cys197Tyr
XM_017017328.2:c.1252G>A	XP_016872817.1:p.Ala418Thr
XM_017017329.2:c.1249G>A	XP_016872818.1:p.Ala417Thr
XM_017017330.2:c.698G>A	XP_016872819.1:p.Cys233Tyr
XM_017017331.2:c.698G>A	XP_016872820.1:p.Cys233Tyr
XM_017017332.2:c.512G>A	XP_016872821.1:p.Cys171Tyr
XM_017017333.2:c.529G>A	XP_016872822.1:p.Ala177Thr
XM_017017334.2:c.529G>A	XP_016872823.1:p.Ala177Thr
XM_017017335.2:c.529G>A	XP_016872824.1:p.Ala177Thr
XM_017017336.2:c.421G>A	XP_016872825.1:p.Ala141Thr
XM_024448392.1:c.1211G>A	XP_024304160.1:p.Cys404Tyr
XM_024448393.1:c.698G>A	XP_024304161.1:p.Cys233Tyr
XR_001747789.2:n.1353G>A
XR_001747790.2:n.1353G>A
XR_247191.3:n.1525G>A
NM_139075.4:c.1421G>A MANE Select	NP_620714.2:p.Cys474Tyr