Canonical Allele Identifier: CA6155248

Gene: TPCN2

Linked Data

• dbSNP Id: rs762059393
• ExAC: 11:68846258 G / A
• gnomAD v2: 11-68846258-G-A
• gnomAD v4: 11-69078790-G-A
• MyVariant Identifiers: chr11:g.68846258G>A (hg19) ; chr11:g.69078790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078790G>A , CM000673.2:g.69078790G>A	GRCh38
NC_000011.9:g.68846258G>A , CM000673.1:g.68846258G>A	GRCh37
NC_000011.8:g.68602834G>A	NCBI36
NG_016153.1:g.34909G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000692585.1:c.264G>A	ENSP00000509200.1:p.Leu88=
ENST00000294309.8:c.1407G>A MANE Select	ENSP00000294309.3:p.Leu469=
ENST00000635811.1:c.1407G>A	ENSP00000490341.1:p.Leu469=
ENST00000637084.1:c.264G>A	ENSP00000490615.1:p.Leu88=
ENST00000637342.1:c.1407G>A	ENSP00000490171.1:p.Leu469=
ENST00000637504.1:c.1407G>A	ENSP00000489759.1:p.Leu469=
ENST00000294309.7:c.1407G>A	ENSP00000294309.3:p.Leu469=
ENST00000442692.2:n.1000G>A
ENST00000535009.5:n.1216G>A
ENST00000542467.1:c.1407G>A	ENSP00000445551.1:p.Leu469=
NM_139075.3:c.1407G>A	NP_620714.2:p.Leu469=
XM_005273824.2:c.1404G>A	XP_005273881.1:p.Leu468=
XM_005273826.2:c.1152G>A	XP_005273883.1:p.Leu384=
XM_005273827.2:c.1407G>A	XP_005273884.1:p.Leu469=
XM_005273828.2:c.1407G>A	XP_005273885.1:p.Leu469=
XM_005273830.2:c.714G>A	XP_005273887.1:p.Leu238=
XM_005273831.2:c.714G>A	XP_005273888.1:p.Leu238=
XM_005273832.2:c.684G>A	XP_005273889.1:p.Leu228=
XM_006718453.2:c.1407G>A	XP_006718516.1:p.Leu469=
XM_006718454.2:c.1407G>A	XP_006718517.1:p.Leu469=
XM_006718456.2:c.1407G>A	XP_006718519.1:p.Leu469=
XM_011544802.1:c.1167G>A	XP_011543104.1:p.Leu389=
XM_011544803.1:c.1407G>A	XP_011543105.1:p.Leu469=
XM_011544804.1:c.1407G>A	XP_011543106.1:p.Leu469=
XM_011544805.1:c.1407G>A	XP_011543107.1:p.Leu469=
XM_011544806.1:c.1407G>A	XP_011543108.1:p.Leu469=
XM_011544807.1:c.711G>A	XP_011543109.1:p.Leu237=
XM_011544808.1:c.576G>A	XP_011543110.1:p.Leu192=
XR_247191.1:n.1508G>A
XM_005273824.4:c.1404G>A	XP_005273881.1:p.Leu468=
XM_005273826.4:c.1152G>A	XP_005273883.1:p.Leu384=
XM_005273830.4:c.714G>A	XP_005273887.1:p.Leu238=
XM_005273831.4:c.714G>A	XP_005273888.1:p.Leu238=
XM_005273832.4:c.684G>A	XP_005273889.1:p.Leu228=
XM_011544802.3:c.1167G>A	XP_011543104.1:p.Leu389=
XM_011544807.3:c.711G>A	XP_011543109.1:p.Leu237=
XM_011544808.3:c.576G>A	XP_011543110.1:p.Leu192=
XM_017017328.2:c.1238G>A	XP_016872817.1:p.Trp413Ter
XM_017017329.2:c.1235G>A	XP_016872818.1:p.Trp412Ter
XM_017017330.2:c.684G>A	XP_016872819.1:p.Leu228=
XM_017017331.2:c.684G>A	XP_016872820.1:p.Leu228=
XM_017017332.2:c.498G>A	XP_016872821.1:p.Leu166=
XM_017017333.2:c.515G>A	XP_016872822.1:p.Trp172Ter
XM_017017334.2:c.515G>A	XP_016872823.1:p.Trp172Ter
XM_017017335.2:c.515G>A	XP_016872824.1:p.Trp172Ter
XM_017017336.2:c.407G>A	XP_016872825.1:p.Trp136Ter
XM_024448392.1:c.1197G>A	XP_024304160.1:p.Leu399=
XM_024448393.1:c.684G>A	XP_024304161.1:p.Leu228=
XR_001747789.2:n.1339G>A
XR_001747790.2:n.1339G>A
XR_247191.3:n.1511G>A
NM_139075.4:c.1407G>A MANE Select	NP_620714.2:p.Leu469=