Canonical Allele Identifier: CA381652214

Gene: TPCN2

Linked Data

• gnomAD v4: 11-69087937-T-G
• MyVariant Identifiers: chr11:g.68855405T>G (hg19) ; chr11:g.69087937T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087937T>G , CM000673.2:g.69087937T>G	GRCh38
NC_000011.9:g.68855405T>G , CM000673.1:g.68855405T>G	GRCh37
NC_000011.8:g.68611981T>G	NCBI36
NG_016153.1:g.44056T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.1100T>G	ENSP00000509200.1:p.Leu367Arg
ENST00000294309.8:c.2243T>G MANE Select	ENSP00000294309.3:p.Leu748Arg
ENST00000635811.1:c.*438T>G	ENSP00000490341.1:n.*438T>G
ENST00000637084.1:c.1100T>G	ENSP00000490615.1:p.Leu367Arg
ENST00000637342.1:c.2003+2007T>G	ENSP00000490171.1:n.2003+2007T>G
ENST00000637504.1:c.*33+2651T>G	ENSP00000489759.1:n.*33+2651T>G
ENST00000294309.7:c.2243T>G	ENSP00000294309.3:p.Leu748Arg
ENST00000442692.2:n.1709T>G
ENST00000542467.1:c.1697T>G	ENSP00000445551.1:p.Leu566Arg
NM_139075.3:c.2243T>G	NP_620714.2:p.Leu748Arg
XM_005273824.2:c.2240T>G	XP_005273881.1:p.Leu747Arg
XM_005273826.2:c.1988T>G	XP_005273883.1:p.Leu663Arg
XM_005273830.2:c.1550T>G	XP_005273887.1:p.Leu517Arg
XM_005273831.2:c.1550T>G	XP_005273888.1:p.Leu517Arg
XM_005273832.2:c.1520T>G	XP_005273889.1:p.Leu507Arg
XM_006718453.2:c.1639+6438T>G	XP_006718516.1:n.1639+6438T>G
XM_006718454.2:c.1689+6438T>G	XP_006718517.1:n.1689+6438T>G
XM_011544802.1:c.2003T>G	XP_011543104.1:p.Leu668Arg
XM_011544807.1:c.1547T>G	XP_011543109.1:p.Leu516Arg
XM_011544808.1:c.1412T>G	XP_011543110.1:p.Leu471Arg
XM_005273824.4:c.2240T>G	XP_005273881.1:p.Leu747Arg
XM_005273826.4:c.1988T>G	XP_005273883.1:p.Leu663Arg
XM_005273830.4:c.1550T>G	XP_005273887.1:p.Leu517Arg
XM_005273831.4:c.1550T>G	XP_005273888.1:p.Leu517Arg
XM_005273832.4:c.1520T>G	XP_005273889.1:p.Leu507Arg
XM_011544802.3:c.2003T>G	XP_011543104.1:p.Leu668Arg
XM_011544807.3:c.1547T>G	XP_011543109.1:p.Leu516Arg
XM_011544808.3:c.1412T>G	XP_011543110.1:p.Leu471Arg
XM_017017328.2:c.2024T>G	XP_016872817.1:p.Leu675Arg
XM_017017329.2:c.2021T>G	XP_016872818.1:p.Leu674Arg
XM_017017330.2:c.1520T>G	XP_016872819.1:p.Leu507Arg
XM_017017331.2:c.1520T>G	XP_016872820.1:p.Leu507Arg
XM_017017332.2:c.1334T>G	XP_016872821.1:p.Leu445Arg
XM_017017333.2:c.1301T>G	XP_016872822.1:p.Leu434Arg
XM_017017334.2:c.1301T>G	XP_016872823.1:p.Leu434Arg
XM_017017335.2:c.1301T>G	XP_016872824.1:p.Leu434Arg
XM_017017336.2:c.1193T>G	XP_016872825.1:p.Leu398Arg
XM_024448392.1:c.2033T>G	XP_024304160.1:p.Leu678Arg
XM_024448393.1:c.1520T>G	XP_024304161.1:p.Leu507Arg
XR_001747789.2:n.2175T>G
XR_247191.3:n.2297T>G
NM_139075.4:c.2243T>G MANE Select	NP_620714.2:p.Leu748Arg