Canonical Allele Identifier: CA6155644

Gene: TPCN2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087153C>T , CM000673.2:g.69087153C>T	GRCh38
NC_000011.9:g.68854621C>T , CM000673.1:g.68854621C>T	GRCh37
NC_000011.8:g.68611197C>T	NCBI36
NG_016153.1:g.43272C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_139075.4:c.2127C>T MANE Select	NP_620714.2:p.Pro709=
ENST00000294309.8:c.2127C>T MANE Select	ENSP00000294309.3:p.Pro709=
NM_139075.3:c.2127C>T	NP_620714.2:p.Pro709=
ENST00000294309.7:c.2127C>T	ENSP00000294309.3:p.Pro709=
ENST00000442692.2:n.1593C>T
ENST00000542467.1:c.1581C>T	ENSP00000445551.1:p.Pro527=
ENST00000635811.1:c.*322C>T	ENSP00000490341.1:n.*322C>T
ENST00000637084.1:c.984C>T	ENSP00000490615.1:p.Pro328=
ENST00000637342.1:c.2003+1223C>T	ENSP00000490171.1:n.2003+1223C>T
ENST00000637504.1:c.*33+1867C>T	ENSP00000489759.1:n.*33+1867C>T
ENST00000692585.1:c.984C>T	ENSP00000509200.1:p.Pro328=
XM_005273824.2:c.2124C>T	XP_005273881.1:p.Pro708=
XM_005273824.4:c.2124C>T	XP_005273881.1:p.Pro708=
XM_005273826.2:c.1872C>T	XP_005273883.1:p.Pro624=
XM_005273826.4:c.1872C>T	XP_005273883.1:p.Pro624=
XM_005273830.2:c.1434C>T	XP_005273887.1:p.Pro478=
XM_005273830.4:c.1434C>T	XP_005273887.1:p.Pro478=
XM_005273831.2:c.1434C>T	XP_005273888.1:p.Pro478=
XM_005273831.4:c.1434C>T	XP_005273888.1:p.Pro478=
XM_005273832.2:c.1404C>T	XP_005273889.1:p.Pro468=
XM_005273832.4:c.1404C>T	XP_005273889.1:p.Pro468=
XM_006718453.2:c.1639+5654C>T	XP_006718516.1:n.1639+5654C>T
XM_006718454.2:c.1689+5654C>T	XP_006718517.1:n.1689+5654C>T
XM_011544802.1:c.1887C>T	XP_011543104.1:p.Pro629=
XM_011544802.3:c.1887C>T	XP_011543104.1:p.Pro629=
XM_011544807.1:c.1431C>T	XP_011543109.1:p.Pro477=
XM_011544807.3:c.1431C>T	XP_011543109.1:p.Pro477=
XM_011544808.1:c.1296C>T	XP_011543110.1:p.Pro432=
XM_011544808.3:c.1296C>T	XP_011543110.1:p.Pro432=
XM_017017328.2:c.1908C>T	XP_016872817.1:p.Pro636=
XM_017017329.2:c.1905C>T	XP_016872818.1:p.Pro635=
XM_017017330.2:c.1404C>T	XP_016872819.1:p.Pro468=
XM_017017331.2:c.1404C>T	XP_016872820.1:p.Pro468=
XM_017017332.2:c.1218C>T	XP_016872821.1:p.Pro406=
XM_017017333.2:c.1185C>T	XP_016872822.1:p.Pro395=
XM_017017334.2:c.1185C>T	XP_016872823.1:p.Pro395=
XM_017017335.2:c.1185C>T	XP_016872824.1:p.Pro395=
XM_017017336.2:c.1077C>T	XP_016872825.1:p.Pro359=
XM_024448392.1:c.1917C>T	XP_024304160.1:p.Pro639=
XM_024448393.1:c.1404C>T	XP_024304161.1:p.Pro468=
XR_001747789.2:n.2059C>T
XR_247191.1:n.2178C>T
XR_247191.3:n.2181C>T