Canonical Allele Identifier: CA381651790

Gene: TPCN2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69087152C>A , CM000673.2:g.69087152C>A	GRCh38
NC_000011.9:g.68854620C>A , CM000673.1:g.68854620C>A	GRCh37
NC_000011.8:g.68611196C>A	NCBI36
NG_016153.1:g.43271C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.983C>A	ENSP00000509200.1:p.Pro328His
ENST00000294309.8:c.2126C>A MANE Select	ENSP00000294309.3:p.Pro709His
ENST00000635811.1:c.*321C>A	ENSP00000490341.1:n.*321C>A
ENST00000637084.1:c.983C>A	ENSP00000490615.1:p.Pro328His
ENST00000637342.1:c.2003+1222C>A	ENSP00000490171.1:n.2003+1222C>A
ENST00000637504.1:c.*33+1866C>A	ENSP00000489759.1:n.*33+1866C>A
ENST00000294309.7:c.2126C>A	ENSP00000294309.3:p.Pro709His
ENST00000442692.2:n.1592C>A
ENST00000542467.1:c.1580C>A	ENSP00000445551.1:p.Pro527His
NM_139075.3:c.2126C>A	NP_620714.2:p.Pro709His
XM_005273824.2:c.2123C>A	XP_005273881.1:p.Pro708His
XM_005273826.2:c.1871C>A	XP_005273883.1:p.Pro624His
XM_005273830.2:c.1433C>A	XP_005273887.1:p.Pro478His
XM_005273831.2:c.1433C>A	XP_005273888.1:p.Pro478His
XM_005273832.2:c.1403C>A	XP_005273889.1:p.Pro468His
XM_006718453.2:c.1639+5653C>A	XP_006718516.1:n.1639+5653C>A
XM_006718454.2:c.1689+5653C>A	XP_006718517.1:n.1689+5653C>A
XM_011544802.1:c.1886C>A	XP_011543104.1:p.Pro629His
XM_011544807.1:c.1430C>A	XP_011543109.1:p.Pro477His
XM_011544808.1:c.1295C>A	XP_011543110.1:p.Pro432His
XR_247191.1:n.2177C>A
XM_005273824.4:c.2123C>A	XP_005273881.1:p.Pro708His
XM_005273826.4:c.1871C>A	XP_005273883.1:p.Pro624His
XM_005273830.4:c.1433C>A	XP_005273887.1:p.Pro478His
XM_005273831.4:c.1433C>A	XP_005273888.1:p.Pro478His
XM_005273832.4:c.1403C>A	XP_005273889.1:p.Pro468His
XM_011544802.3:c.1886C>A	XP_011543104.1:p.Pro629His
XM_011544807.3:c.1430C>A	XP_011543109.1:p.Pro477His
XM_011544808.3:c.1295C>A	XP_011543110.1:p.Pro432His
XM_017017328.2:c.1907C>A	XP_016872817.1:p.Pro636His
XM_017017329.2:c.1904C>A	XP_016872818.1:p.Pro635His
XM_017017330.2:c.1403C>A	XP_016872819.1:p.Pro468His
XM_017017331.2:c.1403C>A	XP_016872820.1:p.Pro468His
XM_017017332.2:c.1217C>A	XP_016872821.1:p.Pro406His
XM_017017333.2:c.1184C>A	XP_016872822.1:p.Pro395His
XM_017017334.2:c.1184C>A	XP_016872823.1:p.Pro395His
XM_017017335.2:c.1184C>A	XP_016872824.1:p.Pro395His
XM_017017336.2:c.1076C>A	XP_016872825.1:p.Pro359His
XM_024448392.1:c.1916C>A	XP_024304160.1:p.Pro639His
XM_024448393.1:c.1403C>A	XP_024304161.1:p.Pro468His
XR_001747789.2:n.2058C>A
XR_247191.3:n.2180C>A
NM_139075.4:c.2126C>A MANE Select	NP_620714.2:p.Pro709His