Canonical Allele Identifier: CA381652249

Gene: TPCN2

Linked Data

• gnomAD v4: 11-69087953-A-G
• MyVariant Identifiers: chr11:g.68855421A>G (hg19) ; chr11:g.69087953A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087953A>G , CM000673.2:g.69087953A>G	GRCh38
NC_000011.9:g.68855421A>G , CM000673.1:g.68855421A>G	GRCh37
NC_000011.8:g.68611997A>G	NCBI36
NG_016153.1:g.44072A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.1116A>G	ENSP00000509200.1:p.Ter372Trp
ENST00000294309.8:c.2259A>G MANE Select	ENSP00000294309.3:p.Ter753Trp
ENST00000635811.1:c.*454A>G	ENSP00000490341.1:n.*454A>G
ENST00000637084.1:c.1116A>G	ENSP00000490615.1:p.Ter372Trp
ENST00000637342.1:c.2003+2023A>G	ENSP00000490171.1:n.2003+2023A>G
ENST00000637504.1:c.*33+2667A>G	ENSP00000489759.1:n.*33+2667A>G
ENST00000294309.7:c.2259A>G	ENSP00000294309.3:p.Ter753Trp
ENST00000442692.2:n.1725A>G
ENST00000542467.1:c.1713A>G	ENSP00000445551.1:p.Ter571Trp
NM_139075.3:c.2259A>G	NP_620714.2:p.Ter753Trp
XM_005273824.2:c.2256A>G	XP_005273881.1:p.Ter752Trp
XM_005273826.2:c.2004A>G	XP_005273883.1:p.Ter668Trp
XM_005273830.2:c.1566A>G	XP_005273887.1:p.Ter522Trp
XM_005273831.2:c.1566A>G	XP_005273888.1:p.Ter522Trp
XM_005273832.2:c.1536A>G	XP_005273889.1:p.Ter512Trp
XM_006718453.2:c.1639+6454A>G	XP_006718516.1:n.1639+6454A>G
XM_006718454.2:c.1689+6454A>G	XP_006718517.1:n.1689+6454A>G
XM_011544802.1:c.2019A>G	XP_011543104.1:p.Ter673Trp
XM_011544807.1:c.1563A>G	XP_011543109.1:p.Ter521Trp
XM_011544808.1:c.1428A>G	XP_011543110.1:p.Ter476Trp
XM_005273824.4:c.2256A>G	XP_005273881.1:p.Ter752Trp
XM_005273826.4:c.2004A>G	XP_005273883.1:p.Ter668Trp
XM_005273830.4:c.1566A>G	XP_005273887.1:p.Ter522Trp
XM_005273831.4:c.1566A>G	XP_005273888.1:p.Ter522Trp
XM_005273832.4:c.1536A>G	XP_005273889.1:p.Ter512Trp
XM_011544802.3:c.2019A>G	XP_011543104.1:p.Ter673Trp
XM_011544807.3:c.1563A>G	XP_011543109.1:p.Ter521Trp
XM_011544808.3:c.1428A>G	XP_011543110.1:p.Ter476Trp
XM_017017328.2:c.2040A>G	XP_016872817.1:p.Ter680Trp
XM_017017329.2:c.2037A>G	XP_016872818.1:p.Ter679Trp
XM_017017330.2:c.1536A>G	XP_016872819.1:p.Ter512Trp
XM_017017331.2:c.1536A>G	XP_016872820.1:p.Ter512Trp
XM_017017332.2:c.1350A>G	XP_016872821.1:p.Ter450Trp
XM_017017333.2:c.1317A>G	XP_016872822.1:p.Ter439Trp
XM_017017334.2:c.1317A>G	XP_016872823.1:p.Ter439Trp
XM_017017335.2:c.1317A>G	XP_016872824.1:p.Ter439Trp
XM_017017336.2:c.1209A>G	XP_016872825.1:p.Ter403Trp
XM_024448392.1:c.2049A>G	XP_024304160.1:p.Ter683Trp
XM_024448393.1:c.1536A>G	XP_024304161.1:p.Ter512Trp
XR_001747789.2:n.2191A>G
XR_247191.3:n.2313A>G
NM_139075.4:c.2259A>G MANE Select	NP_620714.2:p.Ter753Trp