Canonical Allele Identifier: CA475209833
Gene: TPCN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68846213G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078745G>C , CM000673.2:g.69078745G>C GRCh38
NC_000011.9:g.68846213G>C , CM000673.1:g.68846213G>C GRCh37
NC_000011.8:g.68602789G>C NCBI36
NG_016153.1:g.34864G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000692585.1:c.219G>C ENSP00000509200.1:p.Val73=
ENST00000294309.8:c.1362G>C MANE Select ENSP00000294309.3:p.Val454=
ENST00000635811.1:c.1362G>C ENSP00000490341.1:p.Val454=
ENST00000637084.1:c.219G>C ENSP00000490615.1:p.Val73=
ENST00000637342.1:c.1362G>C ENSP00000490171.1:p.Val454=
ENST00000637504.1:c.1362G>C ENSP00000489759.1:p.Val454=
ENST00000294309.7:c.1362G>C ENSP00000294309.3:p.Val454=
ENST00000442692.2:n.955G>C
ENST00000535009.5:n.1171G>C
ENST00000542467.1:c.1362G>C ENSP00000445551.1:p.Val454=
NM_139075.3:c.1362G>C NP_620714.2:p.Val454=
XM_005273824.2:c.1359G>C XP_005273881.1:p.Val453=
XM_005273826.2:c.1107G>C XP_005273883.1:p.Val369=
XM_005273827.2:c.1362G>C XP_005273884.1:p.Val454=
XM_005273828.2:c.1362G>C XP_005273885.1:p.Val454=
XM_005273830.2:c.669G>C XP_005273887.1:p.Val223=
XM_005273831.2:c.669G>C XP_005273888.1:p.Val223=
XM_005273832.2:c.639G>C XP_005273889.1:p.Val213=
XM_006718453.2:c.1362G>C XP_006718516.1:p.Val454=
XM_006718454.2:c.1362G>C XP_006718517.1:p.Val454=
XM_006718456.2:c.1362G>C XP_006718519.1:p.Val454=
XM_011544802.1:c.1122G>C XP_011543104.1:p.Val374=
XM_011544803.1:c.1362G>C XP_011543105.1:p.Val454=
XM_011544804.1:c.1362G>C XP_011543106.1:p.Val454=
XM_011544805.1:c.1362G>C XP_011543107.1:p.Val454=
XM_011544806.1:c.1362G>C XP_011543108.1:p.Val454=
XM_011544807.1:c.666G>C XP_011543109.1:p.Val222=
XM_011544808.1:c.531G>C XP_011543110.1:p.Val177=
XR_247191.1:n.1463G>C
XM_005273824.4:c.1359G>C XP_005273881.1:p.Val453=
XM_005273826.4:c.1107G>C XP_005273883.1:p.Val369=
XM_005273830.4:c.669G>C XP_005273887.1:p.Val223=
XM_005273831.4:c.669G>C XP_005273888.1:p.Val223=
XM_005273832.4:c.639G>C XP_005273889.1:p.Val213=
XM_011544802.3:c.1122G>C XP_011543104.1:p.Val374=
XM_011544807.3:c.666G>C XP_011543109.1:p.Val222=
XM_011544808.3:c.531G>C XP_011543110.1:p.Val177=
XM_017017328.2:c.1193G>C XP_016872817.1:p.Cys398Ser
XM_017017329.2:c.1190G>C XP_016872818.1:p.Cys397Ser
XM_017017330.2:c.639G>C XP_016872819.1:p.Val213=
XM_017017331.2:c.639G>C XP_016872820.1:p.Val213=
XM_017017332.2:c.453G>C XP_016872821.1:p.Val151=
XM_017017333.2:c.470G>C XP_016872822.1:p.Cys157Ser
XM_017017334.2:c.470G>C XP_016872823.1:p.Cys157Ser
XM_017017335.2:c.470G>C XP_016872824.1:p.Cys157Ser
XM_017017336.2:c.362G>C XP_016872825.1:p.Cys121Ser
XM_024448392.1:c.1152G>C XP_024304160.1:p.Val384=
XM_024448393.1:c.639G>C XP_024304161.1:p.Val213=
XR_001747789.2:n.1294G>C
XR_001747790.2:n.1294G>C
XR_247191.3:n.1466G>C
NM_139075.4:c.1362G>C MANE Select NP_620714.2:p.Val454=