Canonical Allele Identifier: CA395867371

Gene: NOD2

Linked Data

• gnomAD v4: 16-50710605-G-T
• MyVariant Identifiers: chr16:g.50744516G>T (hg19) ; chr16:g.50710605G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710605G>T , CM000678.2:g.50710605G>T	GRCh38
NC_000016.9:g.50744516G>T , CM000678.1:g.50744516G>T	GRCh37
NC_000016.8:g.49302017G>T	NCBI36
NG_007508.1:g.18467G>T , LRG_177:g.18467G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.613G>T	ENSP00000493088.1:p.Ala205Ser
ENST00000646677.2:c.613G>T	ENSP00000496533.1:p.Ala205Ser
ENST00000641284.1:c.613G>T	ENSP00000493088.1:p.Ala205Ser
ENST00000646677.1:c.613G>T	ENSP00000496533.1:p.Ala205Ser
ENST00000647318.2:c.613G>T MANE Select	ENSP00000495993.1:p.Ala205Ser
ENST00000300589.6:c.694G>T	ENSP00000300589.2:p.Ala232Ser
ENST00000526417.6:n.754G>T
ENST00000527070.5:c.*1309G>T	ENSP00000435149.1:n.*1309G>T
ENST00000532206.1:n.692G>T
NM_001293557.1:c.613G>T	NP_001280486.1:p.Ala205Ser
NM_022162.2:c.694G>T	NP_071445.1:p.Ala232Ser
XM_005256084.2:c.613G>T	XP_005256141.1:p.Ala205Ser
XM_006721242.2:c.613G>T	XP_006721305.1:p.Ala205Ser
XM_006721243.2:c.613G>T	XP_006721306.1:p.Ala205Ser
XM_011523257.1:c.190G>T	XP_011521559.1:p.Ala64Ser
XM_011523258.1:c.190G>T	XP_011521560.1:p.Ala64Ser
XM_011523259.1:c.28G>T	XP_011521561.1:p.Ala10Ser
XM_011523260.1:c.613G>T	XP_011521562.1:p.Ala205Ser
XM_011523261.1:c.613G>T	XP_011521563.1:p.Ala205Ser
XR_429725.2:n.703G>T
XR_429726.2:n.703G>T
XR_933387.1:n.703G>T
XM_005256084.4:c.613G>T	XP_005256141.1:p.Ala205Ser
XM_006721242.4:c.613G>T	XP_006721305.1:p.Ala205Ser
XM_006721243.4:c.613G>T	XP_006721306.1:p.Ala205Ser
XM_011523259.2:c.28G>T	XP_011521561.1:p.Ala10Ser
XM_011523260.3:c.613G>T	XP_011521562.1:p.Ala205Ser
XM_011523261.2:c.613G>T	XP_011521563.1:p.Ala205Ser
XM_017023535.1:c.121G>T	XP_016879024.1:p.Ala41Ser
XM_017023536.1:c.28G>T	XP_016879025.1:p.Ala10Ser
XM_017023537.1:c.28G>T	XP_016879026.1:p.Ala10Ser
XM_017023538.1:c.28G>T	XP_016879027.1:p.Ala10Ser
XR_429725.3:n.656G>T
XR_429726.3:n.656G>T
XR_933387.2:n.656G>T
NM_001293557.2:c.613G>T	NP_001280486.1:p.Ala205Ser
NM_001370466.1:c.613G>T MANE Select	NP_001357395.1:p.Ala205Ser
NM_022162.3:c.694G>T	NP_071445.1:p.Ala232Ser
NR_163434.1:n.678G>T