Canonical Allele Identifier: CA381652099

Gene: TPCN2

Linked Data

• MyVariant Identifiers: chr11:g.68855351T>G (hg19) ; chr11:g.69087883T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087883T>G , CM000673.2:g.69087883T>G	GRCh38
NC_000011.9:g.68855351T>G , CM000673.1:g.68855351T>G	GRCh37
NC_000011.8:g.68611927T>G	NCBI36
NG_016153.1:g.44002T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.1046T>G	ENSP00000509200.1:p.Leu349Arg
ENST00000294309.8:c.2189T>G MANE Select	ENSP00000294309.3:p.Leu730Arg
ENST00000635811.1:c.*384T>G	ENSP00000490341.1:n.*384T>G
ENST00000637084.1:c.1046T>G	ENSP00000490615.1:p.Leu349Arg
ENST00000637342.1:c.2003+1953T>G	ENSP00000490171.1:n.2003+1953T>G
ENST00000637504.1:c.*33+2597T>G	ENSP00000489759.1:n.*33+2597T>G
ENST00000294309.7:c.2189T>G	ENSP00000294309.3:p.Leu730Arg
ENST00000442692.2:n.1655T>G
ENST00000542467.1:c.1643T>G	ENSP00000445551.1:p.Leu548Arg
NM_139075.3:c.2189T>G	NP_620714.2:p.Leu730Arg
XM_005273824.2:c.2186T>G	XP_005273881.1:p.Leu729Arg
XM_005273826.2:c.1934T>G	XP_005273883.1:p.Leu645Arg
XM_005273830.2:c.1496T>G	XP_005273887.1:p.Leu499Arg
XM_005273831.2:c.1496T>G	XP_005273888.1:p.Leu499Arg
XM_005273832.2:c.1466T>G	XP_005273889.1:p.Leu489Arg
XM_006718453.2:c.1639+6384T>G	XP_006718516.1:n.1639+6384T>G
XM_006718454.2:c.1689+6384T>G	XP_006718517.1:n.1689+6384T>G
XM_011544802.1:c.1949T>G	XP_011543104.1:p.Leu650Arg
XM_011544807.1:c.1493T>G	XP_011543109.1:p.Leu498Arg
XM_011544808.1:c.1358T>G	XP_011543110.1:p.Leu453Arg
XR_247191.1:n.2240T>G
XM_005273824.4:c.2186T>G	XP_005273881.1:p.Leu729Arg
XM_005273826.4:c.1934T>G	XP_005273883.1:p.Leu645Arg
XM_005273830.4:c.1496T>G	XP_005273887.1:p.Leu499Arg
XM_005273831.4:c.1496T>G	XP_005273888.1:p.Leu499Arg
XM_005273832.4:c.1466T>G	XP_005273889.1:p.Leu489Arg
XM_011544802.3:c.1949T>G	XP_011543104.1:p.Leu650Arg
XM_011544807.3:c.1493T>G	XP_011543109.1:p.Leu498Arg
XM_011544808.3:c.1358T>G	XP_011543110.1:p.Leu453Arg
XM_017017328.2:c.1970T>G	XP_016872817.1:p.Leu657Arg
XM_017017329.2:c.1967T>G	XP_016872818.1:p.Leu656Arg
XM_017017330.2:c.1466T>G	XP_016872819.1:p.Leu489Arg
XM_017017331.2:c.1466T>G	XP_016872820.1:p.Leu489Arg
XM_017017332.2:c.1280T>G	XP_016872821.1:p.Leu427Arg
XM_017017333.2:c.1247T>G	XP_016872822.1:p.Leu416Arg
XM_017017334.2:c.1247T>G	XP_016872823.1:p.Leu416Arg
XM_017017335.2:c.1247T>G	XP_016872824.1:p.Leu416Arg
XM_017017336.2:c.1139T>G	XP_016872825.1:p.Leu380Arg
XM_024448392.1:c.1979T>G	XP_024304160.1:p.Leu660Arg
XM_024448393.1:c.1466T>G	XP_024304161.1:p.Leu489Arg
XR_001747789.2:n.2121T>G
XR_247191.3:n.2243T>G
NM_139075.4:c.2189T>G MANE Select	NP_620714.2:p.Leu730Arg