Canonical Allele Identifier: CA2838190947
Community Standard Title: NM_139075.4(TPCN2):c.2126C= (p.Pro709=)
Gene: TPCN2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_139075.4:c.2126C= MANE Select NP_620714.2:p.Pro709=
ENST00000294309.8:c.2126C= MANE Select ENSP00000294309.3:p.Pro709=
NM_139075.3:c.2126C= NP_620714.2:p.Pro709=
ENST00000294309.7:c.2126C= ENSP00000294309.3:p.Pro709=
ENST00000442692.2:n.1592C=
ENST00000542467.1:c.1580C= ENSP00000445551.1:p.Pro527=
ENST00000635811.1:c.*321C= ENSP00000490341.1:n.*321C=
ENST00000637084.1:c.983C= ENSP00000490615.1:p.Pro328=
ENST00000637342.1:c.2003+1222C= ENSP00000490171.1:n.2003+1222C=
ENST00000637504.1:c.*33+1866C= ENSP00000489759.1:n.*33+1866C=
ENST00000692585.1:c.983C= ENSP00000509200.1:p.Pro328=
XM_005273824.2:c.2123C= XP_005273881.1:p.Pro708=
XM_005273824.4:c.2123C= XP_005273881.1:p.Pro708=
XM_005273826.2:c.1871C= XP_005273883.1:p.Pro624=
XM_005273826.4:c.1871C= XP_005273883.1:p.Pro624=
XM_005273830.2:c.1433C= XP_005273887.1:p.Pro478=
XM_005273830.4:c.1433C= XP_005273887.1:p.Pro478=
XM_005273831.2:c.1433C= XP_005273888.1:p.Pro478=
XM_005273831.4:c.1433C= XP_005273888.1:p.Pro478=
XM_005273832.2:c.1403C= XP_005273889.1:p.Pro468=
XM_005273832.4:c.1403C= XP_005273889.1:p.Pro468=
XM_006718453.2:c.1639+5653C= XP_006718516.1:n.1639+5653C=
XM_006718454.2:c.1689+5653C= XP_006718517.1:n.1689+5653C=
XM_011544802.1:c.1886C= XP_011543104.1:p.Pro629=
XM_011544802.3:c.1886C= XP_011543104.1:p.Pro629=
XM_011544807.1:c.1430C= XP_011543109.1:p.Pro477=
XM_011544807.3:c.1430C= XP_011543109.1:p.Pro477=
XM_011544808.1:c.1295C= XP_011543110.1:p.Pro432=
XM_011544808.3:c.1295C= XP_011543110.1:p.Pro432=
XM_017017328.2:c.1907C= XP_016872817.1:p.Pro636=
XM_017017329.2:c.1904C= XP_016872818.1:p.Pro635=
XM_017017330.2:c.1403C= XP_016872819.1:p.Pro468=
XM_017017331.2:c.1403C= XP_016872820.1:p.Pro468=
XM_017017332.2:c.1217C= XP_016872821.1:p.Pro406=
XM_017017333.2:c.1184C= XP_016872822.1:p.Pro395=
XM_017017334.2:c.1184C= XP_016872823.1:p.Pro395=
XM_017017335.2:c.1184C= XP_016872824.1:p.Pro395=
XM_017017336.2:c.1076C= XP_016872825.1:p.Pro359=
XM_024448392.1:c.1916C= XP_024304160.1:p.Pro639=
XM_024448393.1:c.1403C= XP_024304161.1:p.Pro468=
XR_001747789.2:n.2058C=
XR_247191.1:n.2177C=
XR_247191.3:n.2180C=