Canonical Allele Identifier: CA977237065

Gene: NOD2

Linked Data

• dbSNP Id: rs1964058021
• gnomAD v3: 16-50703869-C-T
• gnomAD v4: 16-50703869-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50703869C>T , CM000678.2:g.50703869C>T	GRCh38
NC_000016.9:g.50737780C>T , CM000678.1:g.50737780C>T	GRCh37
NC_000016.8:g.49295281C>T	NCBI36
NG_007508.1:g.11731C>T , LRG_177:g.11731C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.459+3915C>T	ENSP00000493088.1:n.459+3915C>T
ENST00000646677.2:c.459+3915C>T	ENSP00000496533.1:n.459+3915C>T
ENST00000641284.1:c.459+3915C>T	ENSP00000493088.1:n.459+3915C>T
ENST00000646677.1:c.459+3915C>T	ENSP00000496533.1:n.459+3915C>T
ENST00000647318.2:c.459+3915C>T MANE Select	ENSP00000495993.1:n.459+3915C>T
ENST00000300589.6:c.540+3915C>T	ENSP00000300589.2:n.540+3915C>T
ENST00000526417.6:n.527+3915C>T
ENST00000527070.5:c.*1155+3915C>T	ENSP00000435149.1:n.*1155+3915C>T
ENST00000532206.1:n.644+3915C>T
NM_001293557.1:c.459+3915C>T	NP_001280486.1:n.459+3915C>T
NM_022162.2:c.540+3915C>T	NP_071445.1:n.540+3915C>T
XM_005256084.2:c.459+3915C>T	XP_005256141.1:n.459+3915C>T
XM_006721242.2:c.459+3915C>T	XP_006721305.1:n.459+3915C>T
XM_006721243.2:c.459+3915C>T	XP_006721306.1:n.459+3915C>T
XM_011523257.1:c.-38+3915C>T	XP_011521559.1:n.-38+3915C>T
XM_011523258.1:c.-37-3986C>T	XP_011521560.1:n.-37-3986C>T
XM_011523259.1:c.-21+3915C>T	XP_011521561.1:n.-21+3915C>T
XM_011523260.1:c.459+3915C>T	XP_011521562.1:n.459+3915C>T
XM_011523261.1:c.459+3915C>T	XP_011521563.1:n.459+3915C>T
XR_429725.2:n.549+3915C>T
XR_429726.2:n.549+3915C>T
XR_933387.1:n.549+3915C>T
XM_005256084.4:c.459+3915C>T	XP_005256141.1:n.459+3915C>T
XM_006721242.4:c.459+3915C>T	XP_006721305.1:n.459+3915C>T
XM_006721243.4:c.459+3915C>T	XP_006721306.1:n.459+3915C>T
XM_011523259.2:c.-21+3915C>T	XP_011521561.1:n.-21+3915C>T
XM_011523260.3:c.459+3915C>T	XP_011521562.1:n.459+3915C>T
XM_011523261.2:c.459+3915C>T	XP_011521563.1:n.459+3915C>T
XM_017023536.1:c.-126-3986C>T	XP_016879025.1:n.-126-3986C>T
XM_017023537.1:c.-20-6689C>T	XP_016879026.1:n.-20-6689C>T
XM_017023538.1:c.-127+3792C>T	XP_016879027.1:n.-127+3792C>T
XR_429725.3:n.502+3915C>T
XR_429726.3:n.502+3915C>T
XR_933387.2:n.502+3915C>T
NM_001293557.2:c.459+3915C>T	NP_001280486.1:n.459+3915C>T
NM_001370466.1:c.459+3915C>T MANE Select	NP_001357395.1:n.459+3915C>T
NM_022162.3:c.540+3915C>T	NP_071445.1:n.540+3915C>T
NR_163434.1:n.524+3915C>T