Canonical Allele Identifier: CA395876882

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50763791A>C (hg19) ; chr16:g.50729880A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729880A>C , CM000678.2:g.50729880A>C	GRCh38
NC_000016.9:g.50763791A>C , CM000678.1:g.50763791A>C	GRCh37
NC_000016.8:g.49321292A>C	NCBI36
NG_007508.1:g.37742A>C , LRG_177:g.37742A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.*62A>C	ENSP00000493088.1:n.*62A>C
ENST00000646677.2:c.*713A>C	ENSP00000496533.1:n.*713A>C
ENST00000697428.1:n.2426A>C
ENST00000641284.1:c.*62A>C	ENSP00000493088.1:n.*62A>C
ENST00000646677.1:c.*713A>C	ENSP00000496533.1:n.*713A>C
ENST00000647318.2:c.2948A>C MANE Select	ENSP00000495993.1:p.Asn983Thr
ENST00000300589.6:c.3029A>C	ENSP00000300589.2:p.Asn1010Thr
NM_001293557.1:c.2948A>C	NP_001280486.1:p.Asn983Thr
NM_022162.2:c.3029A>C	NP_071445.1:p.Asn1010Thr
XM_005256084.2:c.2948A>C	XP_005256141.1:p.Asn983Thr
XM_006721242.2:c.2864A>C	XP_006721305.1:p.Asn955Thr
XM_011523257.1:c.2525A>C	XP_011521559.1:p.Asn842Thr
XM_011523258.1:c.2525A>C	XP_011521560.1:p.Asn842Thr
XM_011523259.1:c.2363A>C	XP_011521561.1:p.Asn788Thr
XM_005256084.4:c.2948A>C	XP_005256141.1:p.Asn983Thr
XM_006721242.4:c.2864A>C	XP_006721305.1:p.Asn955Thr
XM_011523259.2:c.2363A>C	XP_011521561.1:p.Asn788Thr
XM_017023535.1:c.2456A>C	XP_016879024.1:p.Asn819Thr
XM_017023536.1:c.2363A>C	XP_016879025.1:p.Asn788Thr
XM_017023537.1:c.2363A>C	XP_016879026.1:p.Asn788Thr
XM_017023538.1:c.2363A>C	XP_016879027.1:p.Asn788Thr
NM_001293557.2:c.2948A>C	NP_001280486.1:p.Asn983Thr
NM_001370466.1:c.2948A>C MANE Select	NP_001357395.1:p.Asn983Thr
NM_022162.3:c.3029A>C	NP_071445.1:p.Asn1010Thr
NR_163434.1:n.3160A>C