Canonical Allele Identifier: CA381652109

Gene: TPCN2

Linked Data

• MyVariant Identifiers: chr11:g.68855356G>C (hg19) ; chr11:g.69087888G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087888G>C , CM000673.2:g.69087888G>C	GRCh38
NC_000011.9:g.68855356G>C , CM000673.1:g.68855356G>C	GRCh37
NC_000011.8:g.68611932G>C	NCBI36
NG_016153.1:g.44007G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.1051G>C	ENSP00000509200.1:p.Glu351Gln
ENST00000294309.8:c.2194G>C MANE Select	ENSP00000294309.3:p.Glu732Gln
ENST00000635811.1:c.*389G>C	ENSP00000490341.1:n.*389G>C
ENST00000637084.1:c.1051G>C	ENSP00000490615.1:p.Glu351Gln
ENST00000637342.1:c.2003+1958G>C	ENSP00000490171.1:n.2003+1958G>C
ENST00000637504.1:c.*33+2602G>C	ENSP00000489759.1:n.*33+2602G>C
ENST00000294309.7:c.2194G>C	ENSP00000294309.3:p.Glu732Gln
ENST00000442692.2:n.1660G>C
ENST00000542467.1:c.1648G>C	ENSP00000445551.1:p.Glu550Gln
NM_139075.3:c.2194G>C	NP_620714.2:p.Glu732Gln
XM_005273824.2:c.2191G>C	XP_005273881.1:p.Glu731Gln
XM_005273826.2:c.1939G>C	XP_005273883.1:p.Glu647Gln
XM_005273830.2:c.1501G>C	XP_005273887.1:p.Glu501Gln
XM_005273831.2:c.1501G>C	XP_005273888.1:p.Glu501Gln
XM_005273832.2:c.1471G>C	XP_005273889.1:p.Glu491Gln
XM_006718453.2:c.1639+6389G>C	XP_006718516.1:n.1639+6389G>C
XM_006718454.2:c.1689+6389G>C	XP_006718517.1:n.1689+6389G>C
XM_011544802.1:c.1954G>C	XP_011543104.1:p.Glu652Gln
XM_011544807.1:c.1498G>C	XP_011543109.1:p.Glu500Gln
XM_011544808.1:c.1363G>C	XP_011543110.1:p.Glu455Gln
XR_247191.1:n.2245G>C
XM_005273824.4:c.2191G>C	XP_005273881.1:p.Glu731Gln
XM_005273826.4:c.1939G>C	XP_005273883.1:p.Glu647Gln
XM_005273830.4:c.1501G>C	XP_005273887.1:p.Glu501Gln
XM_005273831.4:c.1501G>C	XP_005273888.1:p.Glu501Gln
XM_005273832.4:c.1471G>C	XP_005273889.1:p.Glu491Gln
XM_011544802.3:c.1954G>C	XP_011543104.1:p.Glu652Gln
XM_011544807.3:c.1498G>C	XP_011543109.1:p.Glu500Gln
XM_011544808.3:c.1363G>C	XP_011543110.1:p.Glu455Gln
XM_017017328.2:c.1975G>C	XP_016872817.1:p.Glu659Gln
XM_017017329.2:c.1972G>C	XP_016872818.1:p.Glu658Gln
XM_017017330.2:c.1471G>C	XP_016872819.1:p.Glu491Gln
XM_017017331.2:c.1471G>C	XP_016872820.1:p.Glu491Gln
XM_017017332.2:c.1285G>C	XP_016872821.1:p.Glu429Gln
XM_017017333.2:c.1252G>C	XP_016872822.1:p.Glu418Gln
XM_017017334.2:c.1252G>C	XP_016872823.1:p.Glu418Gln
XM_017017335.2:c.1252G>C	XP_016872824.1:p.Glu418Gln
XM_017017336.2:c.1144G>C	XP_016872825.1:p.Glu382Gln
XM_024448392.1:c.1984G>C	XP_024304160.1:p.Glu662Gln
XM_024448393.1:c.1471G>C	XP_024304161.1:p.Glu491Gln
XR_001747789.2:n.2126G>C
XR_247191.3:n.2248G>C
NM_139075.4:c.2194G>C MANE Select	NP_620714.2:p.Glu732Gln