Canonical Allele Identifier: CA2841590996

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711999_50712000del , CM000678.2:g.50711999_50712000del	GRCh38
NC_000016.9:g.50745910_50745911del , CM000678.1:g.50745910_50745911del	GRCh37
NC_000016.8:g.49303411_49303412del	NCBI36
NG_007508.1:g.19861_19862del , LRG_177:g.19861_19862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2007_2008del	ENSP00000493088.1:p.Lys671GlyfsTer?
ENST00000646677.2:c.2007_2008del	ENSP00000496533.1:p.Lys671GlyfsTer?
ENST00000641284.1:c.2007_2008del	ENSP00000493088.1:p.Lys671GlyfsTer?
ENST00000646677.1:c.2007_2008del	ENSP00000496533.1:p.Lys671GlyfsTer?
ENST00000647318.2:c.2007_2008del MANE Select	ENSP00000495993.1:p.Lys671GlyfsTer?
ENST00000300589.6:c.2088_2089del	ENSP00000300589.2:p.Lys698GlyfsTer?
NM_001293557.1:c.2007_2008del	NP_001280486.1:p.Lys671GlyfsTer?
NM_022162.2:c.2088_2089del	NP_071445.1:p.Lys698GlyfsTer?
XM_005256084.2:c.2007_2008del	XP_005256141.1:p.Lys671GlyfsTer?
XM_006721242.2:c.2007_2008del	XP_006721305.1:p.Lys671GlyfsTer?
XM_006721243.2:c.2007_2008del	XP_006721306.1:p.Lys671GlyfsTer?
XM_011523257.1:c.1584_1585del	XP_011521559.1:p.Lys530GlyfsTer?
XM_011523258.1:c.1584_1585del	XP_011521560.1:p.Lys530GlyfsTer?
XM_011523259.1:c.1422_1423del	XP_011521561.1:p.Lys476GlyfsTer?
XM_011523260.1:c.2007_2008del	XP_011521562.1:p.Lys671GlyfsTer?
XM_011523261.1:c.2007_2008del	XP_011521563.1:p.Lys671GlyfsTer?
XR_429725.2:n.2097_2098del
XR_429726.2:n.2097_2098del
XR_933387.1:n.2097_2098del
XM_005256084.4:c.2007_2008del	XP_005256141.1:p.Lys671GlyfsTer?
XM_006721242.4:c.2007_2008del	XP_006721305.1:p.Lys671GlyfsTer?
XM_006721243.4:c.2007_2008del	XP_006721306.1:p.Lys671GlyfsTer?
XM_011523259.2:c.1422_1423del	XP_011521561.1:p.Lys476GlyfsTer?
XM_011523260.3:c.2007_2008del	XP_011521562.1:p.Lys671GlyfsTer?
XM_011523261.2:c.2007_2008del	XP_011521563.1:p.Lys671GlyfsTer?
XM_017023535.1:c.1515_1516del	XP_016879024.1:p.Lys507GlyfsTer?
XM_017023536.1:c.1422_1423del	XP_016879025.1:p.Lys476GlyfsTer?
XM_017023537.1:c.1422_1423del	XP_016879026.1:p.Lys476GlyfsTer?
XM_017023538.1:c.1422_1423del	XP_016879027.1:p.Lys476GlyfsTer?
XR_429725.3:n.2050_2051del
XR_429726.3:n.2050_2051del
XR_933387.2:n.2050_2051del
NM_001293557.2:c.2007_2008del	NP_001280486.1:p.Lys671GlyfsTer?
NM_001370466.1:c.2007_2008del MANE Select	NP_001357395.1:p.Lys671GlyfsTer?
NM_022162.3:c.2088_2089del	NP_071445.1:p.Lys698GlyfsTer?
NR_163434.1:n.2072_2073del