Canonical Allele Identifier: CA381652126

Gene: TPCN2

Linked Data

• gnomAD v4: 11-69087897-G-T
• MyVariant Identifiers: chr11:g.68855365G>T (hg19) ; chr11:g.69087897G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087897G>T , CM000673.2:g.69087897G>T	GRCh38
NC_000011.9:g.68855365G>T , CM000673.1:g.68855365G>T	GRCh37
NC_000011.8:g.68611941G>T	NCBI36
NG_016153.1:g.44016G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.1060G>T	ENSP00000509200.1:p.Glu354Ter
ENST00000294309.8:c.2203G>T MANE Select	ENSP00000294309.3:p.Glu735Ter
ENST00000635811.1:c.*398G>T	ENSP00000490341.1:n.*398G>T
ENST00000637084.1:c.1060G>T	ENSP00000490615.1:p.Glu354Ter
ENST00000637342.1:c.2003+1967G>T	ENSP00000490171.1:n.2003+1967G>T
ENST00000637504.1:c.*33+2611G>T	ENSP00000489759.1:n.*33+2611G>T
ENST00000294309.7:c.2203G>T	ENSP00000294309.3:p.Glu735Ter
ENST00000442692.2:n.1669G>T
ENST00000542467.1:c.1657G>T	ENSP00000445551.1:p.Glu553Ter
NM_139075.3:c.2203G>T	NP_620714.2:p.Glu735Ter
XM_005273824.2:c.2200G>T	XP_005273881.1:p.Glu734Ter
XM_005273826.2:c.1948G>T	XP_005273883.1:p.Glu650Ter
XM_005273830.2:c.1510G>T	XP_005273887.1:p.Glu504Ter
XM_005273831.2:c.1510G>T	XP_005273888.1:p.Glu504Ter
XM_005273832.2:c.1480G>T	XP_005273889.1:p.Glu494Ter
XM_006718453.2:c.1639+6398G>T	XP_006718516.1:n.1639+6398G>T
XM_006718454.2:c.1689+6398G>T	XP_006718517.1:n.1689+6398G>T
XM_011544802.1:c.1963G>T	XP_011543104.1:p.Glu655Ter
XM_011544807.1:c.1507G>T	XP_011543109.1:p.Glu503Ter
XM_011544808.1:c.1372G>T	XP_011543110.1:p.Glu458Ter
XR_247191.1:n.2254G>T
XM_005273824.4:c.2200G>T	XP_005273881.1:p.Glu734Ter
XM_005273826.4:c.1948G>T	XP_005273883.1:p.Glu650Ter
XM_005273830.4:c.1510G>T	XP_005273887.1:p.Glu504Ter
XM_005273831.4:c.1510G>T	XP_005273888.1:p.Glu504Ter
XM_005273832.4:c.1480G>T	XP_005273889.1:p.Glu494Ter
XM_011544802.3:c.1963G>T	XP_011543104.1:p.Glu655Ter
XM_011544807.3:c.1507G>T	XP_011543109.1:p.Glu503Ter
XM_011544808.3:c.1372G>T	XP_011543110.1:p.Glu458Ter
XM_017017328.2:c.1984G>T	XP_016872817.1:p.Glu662Ter
XM_017017329.2:c.1981G>T	XP_016872818.1:p.Glu661Ter
XM_017017330.2:c.1480G>T	XP_016872819.1:p.Glu494Ter
XM_017017331.2:c.1480G>T	XP_016872820.1:p.Glu494Ter
XM_017017332.2:c.1294G>T	XP_016872821.1:p.Glu432Ter
XM_017017333.2:c.1261G>T	XP_016872822.1:p.Glu421Ter
XM_017017334.2:c.1261G>T	XP_016872823.1:p.Glu421Ter
XM_017017335.2:c.1261G>T	XP_016872824.1:p.Glu421Ter
XM_017017336.2:c.1153G>T	XP_016872825.1:p.Glu385Ter
XM_024448392.1:c.1993G>T	XP_024304160.1:p.Glu665Ter
XM_024448393.1:c.1480G>T	XP_024304161.1:p.Glu494Ter
XR_001747789.2:n.2135G>T
XR_247191.3:n.2257G>T
NM_139075.4:c.2203G>T MANE Select	NP_620714.2:p.Glu735Ter