Canonical Allele Identifier: CA600240116

Gene: TPCN2

Linked Data

• dbSNP Id: rs1331313614
• gnomAD v2: 11-68846301-G-T
• gnomAD v4: 11-69078833-G-T
• MyVariant Identifiers: chr11:g.68846301G>T (hg19) ; chr11:g.69078833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078833G>T , CM000673.2:g.69078833G>T	GRCh38
NC_000011.9:g.68846301G>T , CM000673.1:g.68846301G>T	GRCh37
NC_000011.8:g.68602877G>T	NCBI36
NG_016153.1:g.34952G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000692585.1:c.267+40G>T	ENSP00000509200.1:n.267+40G>T
ENST00000294309.8:c.1410+40G>T MANE Select	ENSP00000294309.3:n.1410+40G>T
ENST00000635811.1:c.1410+40G>T	ENSP00000490341.1:n.1410+40G>T
ENST00000637084.1:c.267+40G>T	ENSP00000490615.1:n.267+40G>T
ENST00000637342.1:c.1410+40G>T	ENSP00000490171.1:n.1410+40G>T
ENST00000637504.1:c.1410+40G>T	ENSP00000489759.1:n.1410+40G>T
ENST00000294309.7:c.1410+40G>T	ENSP00000294309.3:n.1410+40G>T
ENST00000442692.2:n.1003+40G>T
ENST00000535009.5:n.1219+40G>T
ENST00000542467.1:c.1410+40G>T	ENSP00000445551.1:n.1410+40G>T
NM_139075.3:c.1410+40G>T	NP_620714.2:n.1410+40G>T
XM_005273824.2:c.1407+40G>T	XP_005273881.1:n.1407+40G>T
XM_005273826.2:c.1155+40G>T	XP_005273883.1:n.1155+40G>T
XM_005273827.2:c.1410+40G>T	XP_005273884.1:n.1410+40G>T
XM_005273828.2:c.1410+40G>T	XP_005273885.1:n.1410+40G>T
XM_005273830.2:c.717+40G>T	XP_005273887.1:n.717+40G>T
XM_005273831.2:c.717+40G>T	XP_005273888.1:n.717+40G>T
XM_005273832.2:c.687+40G>T	XP_005273889.1:n.687+40G>T
XM_006718453.2:c.1410+40G>T	XP_006718516.1:n.1410+40G>T
XM_006718454.2:c.1410+40G>T	XP_006718517.1:n.1410+40G>T
XM_006718456.2:c.1410+40G>T	XP_006718519.1:n.1410+40G>T
XM_011544802.1:c.1170+40G>T	XP_011543104.1:n.1170+40G>T
XM_011544803.1:c.1410+40G>T	XP_011543105.1:n.1410+40G>T
XM_011544804.1:c.1410+40G>T	XP_011543106.1:n.1410+40G>T
XM_011544805.1:c.1410+40G>T	XP_011543107.1:n.1410+40G>T
XM_011544806.1:c.1410+40G>T	XP_011543108.1:n.1410+40G>T
XM_011544807.1:c.714+40G>T	XP_011543109.1:n.714+40G>T
XM_011544808.1:c.579+40G>T	XP_011543110.1:n.579+40G>T
XR_247191.1:n.1511+40G>T
XM_005273824.4:c.1407+40G>T	XP_005273881.1:n.1407+40G>T
XM_005273826.4:c.1155+40G>T	XP_005273883.1:n.1155+40G>T
XM_005273830.4:c.717+40G>T	XP_005273887.1:n.717+40G>T
XM_005273831.4:c.717+40G>T	XP_005273888.1:n.717+40G>T
XM_005273832.4:c.687+40G>T	XP_005273889.1:n.687+40G>T
XM_011544802.3:c.1170+40G>T	XP_011543104.1:n.1170+40G>T
XM_011544807.3:c.714+40G>T	XP_011543109.1:n.714+40G>T
XM_011544808.3:c.579+40G>T	XP_011543110.1:n.579+40G>T
XM_017017328.2:c.1241+40G>T	XP_016872817.1:n.1241+40G>T
XM_017017329.2:c.1238+40G>T	XP_016872818.1:n.1238+40G>T
XM_017017330.2:c.687+40G>T	XP_016872819.1:n.687+40G>T
XM_017017331.2:c.687+40G>T	XP_016872820.1:n.687+40G>T
XM_017017332.2:c.501+40G>T	XP_016872821.1:n.501+40G>T
XM_017017333.2:c.518+40G>T	XP_016872822.1:n.518+40G>T
XM_017017334.2:c.518+40G>T	XP_016872823.1:n.518+40G>T
XM_017017335.2:c.518+40G>T	XP_016872824.1:n.518+40G>T
XM_017017336.2:c.410+40G>T	XP_016872825.1:n.410+40G>T
XM_024448392.1:c.1200+40G>T	XP_024304160.1:n.1200+40G>T
XM_024448393.1:c.687+40G>T	XP_024304161.1:n.687+40G>T
XR_001747789.2:n.1342+40G>T
XR_001747790.2:n.1342+40G>T
XR_247191.3:n.1514+40G>T
NM_139075.4:c.1410+40G>T MANE Select	NP_620714.2:n.1410+40G>T