Canonical Allele Identifier: CA475210644

Gene: TPCN2

Linked Data

• dbSNP Id: rs1376875254
• gnomAD v2: 11-68855367-G-A
• gnomAD v3: 11-69087899-G-A
• gnomAD v4: 11-69087899-G-A
• MyVariant Identifiers: chr11:g.68855367G>A (hg19) ; chr11:g.69087899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087899G>A , CM000673.2:g.69087899G>A	GRCh38
NC_000011.9:g.68855367G>A , CM000673.1:g.68855367G>A	GRCh37
NC_000011.8:g.68611943G>A	NCBI36
NG_016153.1:g.44018G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000692585.1:c.1062G>A	ENSP00000509200.1:p.Glu354=
ENST00000294309.8:c.2205G>A MANE Select	ENSP00000294309.3:p.Glu735=
ENST00000635811.1:c.*400G>A	ENSP00000490341.1:n.*400G>A
ENST00000637084.1:c.1062G>A	ENSP00000490615.1:p.Glu354=
ENST00000637342.1:c.2003+1969G>A	ENSP00000490171.1:n.2003+1969G>A
ENST00000637504.1:c.*33+2613G>A	ENSP00000489759.1:n.*33+2613G>A
ENST00000294309.7:c.2205G>A	ENSP00000294309.3:p.Glu735=
ENST00000442692.2:n.1671G>A
ENST00000542467.1:c.1659G>A	ENSP00000445551.1:p.Glu553=
NM_139075.3:c.2205G>A	NP_620714.2:p.Glu735=
XM_005273824.2:c.2202G>A	XP_005273881.1:p.Glu734=
XM_005273826.2:c.1950G>A	XP_005273883.1:p.Glu650=
XM_005273830.2:c.1512G>A	XP_005273887.1:p.Glu504=
XM_005273831.2:c.1512G>A	XP_005273888.1:p.Glu504=
XM_005273832.2:c.1482G>A	XP_005273889.1:p.Glu494=
XM_006718453.2:c.1639+6400G>A	XP_006718516.1:n.1639+6400G>A
XM_006718454.2:c.1689+6400G>A	XP_006718517.1:n.1689+6400G>A
XM_011544802.1:c.1965G>A	XP_011543104.1:p.Glu655=
XM_011544807.1:c.1509G>A	XP_011543109.1:p.Glu503=
XM_011544808.1:c.1374G>A	XP_011543110.1:p.Glu458=
XR_247191.1:n.2256G>A
XM_005273824.4:c.2202G>A	XP_005273881.1:p.Glu734=
XM_005273826.4:c.1950G>A	XP_005273883.1:p.Glu650=
XM_005273830.4:c.1512G>A	XP_005273887.1:p.Glu504=
XM_005273831.4:c.1512G>A	XP_005273888.1:p.Glu504=
XM_005273832.4:c.1482G>A	XP_005273889.1:p.Glu494=
XM_011544802.3:c.1965G>A	XP_011543104.1:p.Glu655=
XM_011544807.3:c.1509G>A	XP_011543109.1:p.Glu503=
XM_011544808.3:c.1374G>A	XP_011543110.1:p.Glu458=
XM_017017328.2:c.1986G>A	XP_016872817.1:p.Glu662=
XM_017017329.2:c.1983G>A	XP_016872818.1:p.Glu661=
XM_017017330.2:c.1482G>A	XP_016872819.1:p.Glu494=
XM_017017331.2:c.1482G>A	XP_016872820.1:p.Glu494=
XM_017017332.2:c.1296G>A	XP_016872821.1:p.Glu432=
XM_017017333.2:c.1263G>A	XP_016872822.1:p.Glu421=
XM_017017334.2:c.1263G>A	XP_016872823.1:p.Glu421=
XM_017017335.2:c.1263G>A	XP_016872824.1:p.Glu421=
XM_017017336.2:c.1155G>A	XP_016872825.1:p.Glu385=
XM_024448392.1:c.1995G>A	XP_024304160.1:p.Glu665=
XM_024448393.1:c.1482G>A	XP_024304161.1:p.Glu494=
XR_001747789.2:n.2137G>A
XR_247191.3:n.2259G>A
NM_139075.4:c.2205G>A MANE Select	NP_620714.2:p.Glu735=