Canonical Allele Identifier: CA475209896
Gene: TPCN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68846407C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078939C>G , CM000673.2:g.69078939C>G GRCh38
NC_000011.9:g.68846407C>G , CM000673.1:g.68846407C>G GRCh37
NC_000011.8:g.68602983C>G NCBI36
NG_016153.1:g.35058C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000692585.1:c.315C>G ENSP00000509200.1:p.Leu105=
ENST00000294309.8:c.1458C>G MANE Select ENSP00000294309.3:p.Leu486=
ENST00000635811.1:c.1458C>G ENSP00000490341.1:p.Leu486=
ENST00000637084.1:c.315C>G ENSP00000490615.1:p.Leu105=
ENST00000637342.1:c.1458C>G ENSP00000490171.1:p.Leu486=
ENST00000637504.1:c.1458C>G ENSP00000489759.1:p.Leu486=
ENST00000294309.7:c.1458C>G ENSP00000294309.3:p.Leu486=
ENST00000442692.2:n.1051C>G
ENST00000535009.5:n.1267C>G
ENST00000542467.1:c.1458C>G ENSP00000445551.1:p.Leu486=
NM_139075.3:c.1458C>G NP_620714.2:p.Leu486=
XM_005273824.2:c.1455C>G XP_005273881.1:p.Leu485=
XM_005273826.2:c.1203C>G XP_005273883.1:p.Leu401=
XM_005273827.2:c.1458C>G XP_005273884.1:p.Leu486=
XM_005273828.2:c.1458C>G XP_005273885.1:p.Leu486=
XM_005273830.2:c.765C>G XP_005273887.1:p.Leu255=
XM_005273831.2:c.765C>G XP_005273888.1:p.Leu255=
XM_005273832.2:c.735C>G XP_005273889.1:p.Leu245=
XM_006718453.2:c.1458C>G XP_006718516.1:p.Leu486=
XM_006718454.2:c.1458C>G XP_006718517.1:p.Leu486=
XM_006718456.2:c.1458C>G XP_006718519.1:p.Leu486=
XM_011544802.1:c.1218C>G XP_011543104.1:p.Leu406=
XM_011544803.1:c.1458C>G XP_011543105.1:p.Leu486=
XM_011544804.1:c.1458C>G XP_011543106.1:p.Leu486=
XM_011544805.1:c.1458C>G XP_011543107.1:p.Leu486=
XM_011544806.1:c.1458C>G XP_011543108.1:p.Leu486=
XM_011544807.1:c.762C>G XP_011543109.1:p.Leu254=
XM_011544808.1:c.627C>G XP_011543110.1:p.Leu209=
XR_247191.1:n.1559C>G
XM_005273824.4:c.1455C>G XP_005273881.1:p.Leu485=
XM_005273826.4:c.1203C>G XP_005273883.1:p.Leu401=
XM_005273830.4:c.765C>G XP_005273887.1:p.Leu255=
XM_005273831.4:c.765C>G XP_005273888.1:p.Leu255=
XM_005273832.4:c.735C>G XP_005273889.1:p.Leu245=
XM_011544802.3:c.1218C>G XP_011543104.1:p.Leu406=
XM_011544807.3:c.762C>G XP_011543109.1:p.Leu254=
XM_011544808.3:c.627C>G XP_011543110.1:p.Leu209=
XM_017017328.2:c.1289C>G XP_016872817.1:p.Ser430Ter
XM_017017329.2:c.1286C>G XP_016872818.1:p.Ser429Ter
XM_017017330.2:c.735C>G XP_016872819.1:p.Leu245=
XM_017017331.2:c.735C>G XP_016872820.1:p.Leu245=
XM_017017332.2:c.549C>G XP_016872821.1:p.Leu183=
XM_017017333.2:c.566C>G XP_016872822.1:p.Ser189Ter
XM_017017334.2:c.566C>G XP_016872823.1:p.Ser189Ter
XM_017017335.2:c.566C>G XP_016872824.1:p.Ser189Ter
XM_017017336.2:c.458C>G XP_016872825.1:p.Ser153Ter
XM_024448392.1:c.1248C>G XP_024304160.1:p.Leu416=
XM_024448393.1:c.735C>G XP_024304161.1:p.Leu245=
XR_001747789.2:n.1390C>G
XR_001747790.2:n.1390C>G
XR_247191.3:n.1562C>G
NM_139075.4:c.1458C>G MANE Select NP_620714.2:p.Leu486=