Canonical Allele Identifier: CA679666288

Gene: TPCN2

Linked Data

• dbSNP Id: rs1413333384
• gnomAD v3: 11-69087821-C-G
• gnomAD v4: 11-69087821-C-G
• MyVariant Identifiers: chr11:g.68855289C>G (hg19) ; chr11:g.69087821C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087821C>G , CM000673.2:g.69087821C>G	GRCh38
NC_000011.9:g.68855289C>G , CM000673.1:g.68855289C>G	GRCh37
NC_000011.8:g.68611865C>G	NCBI36
NG_016153.1:g.43940C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.1038-54C>G	ENSP00000509200.1:n.1038-54C>G
ENST00000294309.8:c.2181-54C>G MANE Select	ENSP00000294309.3:n.2181-54C>G
ENST00000635811.1:c.*376-54C>G	ENSP00000490341.1:n.*376-54C>G
ENST00000637084.1:c.1038-54C>G	ENSP00000490615.1:n.1038-54C>G
ENST00000637342.1:c.2003+1891C>G	ENSP00000490171.1:n.2003+1891C>G
ENST00000637504.1:c.*33+2535C>G	ENSP00000489759.1:n.*33+2535C>G
ENST00000294309.7:c.2181-54C>G	ENSP00000294309.3:n.2181-54C>G
ENST00000442692.2:n.1647-54C>G
ENST00000542467.1:c.1635-54C>G	ENSP00000445551.1:n.1635-54C>G
NM_139075.3:c.2181-54C>G	NP_620714.2:n.2181-54C>G
XM_005273824.2:c.2178-54C>G	XP_005273881.1:n.2178-54C>G
XM_005273826.2:c.1926-54C>G	XP_005273883.1:n.1926-54C>G
XM_005273830.2:c.1488-54C>G	XP_005273887.1:n.1488-54C>G
XM_005273831.2:c.1488-54C>G	XP_005273888.1:n.1488-54C>G
XM_005273832.2:c.1458-54C>G	XP_005273889.1:n.1458-54C>G
XM_006718453.2:c.1639+6322C>G	XP_006718516.1:n.1639+6322C>G
XM_006718454.2:c.1689+6322C>G	XP_006718517.1:n.1689+6322C>G
XM_011544802.1:c.1941-54C>G	XP_011543104.1:n.1941-54C>G
XM_011544807.1:c.1485-54C>G	XP_011543109.1:n.1485-54C>G
XM_011544808.1:c.1350-54C>G	XP_011543110.1:n.1350-54C>G
XR_247191.1:n.2232-54C>G
XM_005273824.4:c.2178-54C>G	XP_005273881.1:n.2178-54C>G
XM_005273826.4:c.1926-54C>G	XP_005273883.1:n.1926-54C>G
XM_005273830.4:c.1488-54C>G	XP_005273887.1:n.1488-54C>G
XM_005273831.4:c.1488-54C>G	XP_005273888.1:n.1488-54C>G
XM_005273832.4:c.1458-54C>G	XP_005273889.1:n.1458-54C>G
XM_011544802.3:c.1941-54C>G	XP_011543104.1:n.1941-54C>G
XM_011544807.3:c.1485-54C>G	XP_011543109.1:n.1485-54C>G
XM_011544808.3:c.1350-54C>G	XP_011543110.1:n.1350-54C>G
XM_017017328.2:c.1962-54C>G	XP_016872817.1:n.1962-54C>G
XM_017017329.2:c.1959-54C>G	XP_016872818.1:n.1959-54C>G
XM_017017330.2:c.1458-54C>G	XP_016872819.1:n.1458-54C>G
XM_017017331.2:c.1458-54C>G	XP_016872820.1:n.1458-54C>G
XM_017017332.2:c.1272-54C>G	XP_016872821.1:n.1272-54C>G
XM_017017333.2:c.1239-54C>G	XP_016872822.1:n.1239-54C>G
XM_017017334.2:c.1239-54C>G	XP_016872823.1:n.1239-54C>G
XM_017017335.2:c.1239-54C>G	XP_016872824.1:n.1239-54C>G
XM_017017336.2:c.1131-54C>G	XP_016872825.1:n.1131-54C>G
XM_024448392.1:c.1971-54C>G	XP_024304160.1:n.1971-54C>G
XM_024448393.1:c.1458-54C>G	XP_024304161.1:n.1458-54C>G
XR_001747789.2:n.2113-54C>G
XR_247191.3:n.2235-54C>G
NM_139075.4:c.2181-54C>G MANE Select	NP_620714.2:n.2181-54C>G