Canonical Allele Identifier: CA495479148

Gene: NOD2

Linked Data

• dbSNP Id: rs1965391962
• gnomAD v4: 16-50729848-G-A
• MyVariant Identifiers: chr16:g.50763759G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729848G>A , CM000678.2:g.50729848G>A	GRCh38
NC_000016.9:g.50763759G>A , CM000678.1:g.50763759G>A	GRCh37
NC_000016.8:g.49321260G>A	NCBI36
NG_007508.1:g.37710G>A , LRG_177:g.37710G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*30G>A	ENSP00000493088.1:n.*30G>A
ENST00000646677.2:c.*681G>A	ENSP00000496533.1:n.*681G>A
ENST00000697428.1:n.2394G>A
ENST00000641284.1:c.*30G>A	ENSP00000493088.1:n.*30G>A
ENST00000646677.1:c.*681G>A	ENSP00000496533.1:n.*681G>A
ENST00000647318.2:c.2916G>A MANE Select	ENSP00000495993.1:p.Gly972=
ENST00000300589.6:c.2997G>A	ENSP00000300589.2:p.Gly999=
NM_001293557.1:c.2916G>A	NP_001280486.1:p.Gly972=
NM_022162.2:c.2997G>A	NP_071445.1:p.Gly999=
XM_005256084.2:c.2916G>A	XP_005256141.1:p.Gly972=
XM_006721242.2:c.2832G>A	XP_006721305.1:p.Gly944=
XM_011523257.1:c.2493G>A	XP_011521559.1:p.Gly831=
XM_011523258.1:c.2493G>A	XP_011521560.1:p.Gly831=
XM_011523259.1:c.2331G>A	XP_011521561.1:p.Gly777=
XM_005256084.4:c.2916G>A	XP_005256141.1:p.Gly972=
XM_006721242.4:c.2832G>A	XP_006721305.1:p.Gly944=
XM_011523259.2:c.2331G>A	XP_011521561.1:p.Gly777=
XM_017023535.1:c.2424G>A	XP_016879024.1:p.Gly808=
XM_017023536.1:c.2331G>A	XP_016879025.1:p.Gly777=
XM_017023537.1:c.2331G>A	XP_016879026.1:p.Gly777=
XM_017023538.1:c.2331G>A	XP_016879027.1:p.Gly777=
NM_001293557.2:c.2916G>A	NP_001280486.1:p.Gly972=
NM_001370466.1:c.2916G>A MANE Select	NP_001357395.1:p.Gly972=
NM_022162.3:c.2997G>A	NP_071445.1:p.Gly999=
NR_163434.1:n.3128G>A