Canonical Allele Identifier: CA381652129

Gene: TPCN2

Linked Data

• MyVariant Identifiers: chr11:g.68855366A>C (hg19) ; chr11:g.69087898A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087898A>C , CM000673.2:g.69087898A>C	GRCh38
NC_000011.9:g.68855366A>C , CM000673.1:g.68855366A>C	GRCh37
NC_000011.8:g.68611942A>C	NCBI36
NG_016153.1:g.44017A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000692585.1:c.1061A>C	ENSP00000509200.1:p.Glu354Ala
ENST00000294309.8:c.2204A>C MANE Select	ENSP00000294309.3:p.Glu735Ala
ENST00000635811.1:c.*399A>C	ENSP00000490341.1:n.*399A>C
ENST00000637084.1:c.1061A>C	ENSP00000490615.1:p.Glu354Ala
ENST00000637342.1:c.2003+1968A>C	ENSP00000490171.1:n.2003+1968A>C
ENST00000637504.1:c.*33+2612A>C	ENSP00000489759.1:n.*33+2612A>C
ENST00000294309.7:c.2204A>C	ENSP00000294309.3:p.Glu735Ala
ENST00000442692.2:n.1670A>C
ENST00000542467.1:c.1658A>C	ENSP00000445551.1:p.Glu553Ala
NM_139075.3:c.2204A>C	NP_620714.2:p.Glu735Ala
XM_005273824.2:c.2201A>C	XP_005273881.1:p.Glu734Ala
XM_005273826.2:c.1949A>C	XP_005273883.1:p.Glu650Ala
XM_005273830.2:c.1511A>C	XP_005273887.1:p.Glu504Ala
XM_005273831.2:c.1511A>C	XP_005273888.1:p.Glu504Ala
XM_005273832.2:c.1481A>C	XP_005273889.1:p.Glu494Ala
XM_006718453.2:c.1639+6399A>C	XP_006718516.1:n.1639+6399A>C
XM_006718454.2:c.1689+6399A>C	XP_006718517.1:n.1689+6399A>C
XM_011544802.1:c.1964A>C	XP_011543104.1:p.Glu655Ala
XM_011544807.1:c.1508A>C	XP_011543109.1:p.Glu503Ala
XM_011544808.1:c.1373A>C	XP_011543110.1:p.Glu458Ala
XR_247191.1:n.2255A>C
XM_005273824.4:c.2201A>C	XP_005273881.1:p.Glu734Ala
XM_005273826.4:c.1949A>C	XP_005273883.1:p.Glu650Ala
XM_005273830.4:c.1511A>C	XP_005273887.1:p.Glu504Ala
XM_005273831.4:c.1511A>C	XP_005273888.1:p.Glu504Ala
XM_005273832.4:c.1481A>C	XP_005273889.1:p.Glu494Ala
XM_011544802.3:c.1964A>C	XP_011543104.1:p.Glu655Ala
XM_011544807.3:c.1508A>C	XP_011543109.1:p.Glu503Ala
XM_011544808.3:c.1373A>C	XP_011543110.1:p.Glu458Ala
XM_017017328.2:c.1985A>C	XP_016872817.1:p.Glu662Ala
XM_017017329.2:c.1982A>C	XP_016872818.1:p.Glu661Ala
XM_017017330.2:c.1481A>C	XP_016872819.1:p.Glu494Ala
XM_017017331.2:c.1481A>C	XP_016872820.1:p.Glu494Ala
XM_017017332.2:c.1295A>C	XP_016872821.1:p.Glu432Ala
XM_017017333.2:c.1262A>C	XP_016872822.1:p.Glu421Ala
XM_017017334.2:c.1262A>C	XP_016872823.1:p.Glu421Ala
XM_017017335.2:c.1262A>C	XP_016872824.1:p.Glu421Ala
XM_017017336.2:c.1154A>C	XP_016872825.1:p.Glu385Ala
XM_024448392.1:c.1994A>C	XP_024304160.1:p.Glu665Ala
XM_024448393.1:c.1481A>C	XP_024304161.1:p.Glu494Ala
XR_001747789.2:n.2136A>C
XR_247191.3:n.2258A>C
NM_139075.4:c.2204A>C MANE Select	NP_620714.2:p.Glu735Ala