Canonical Allele Identifier: CA395875314

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756610G>C (hg19) ; chr16:g.50722699G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722699G>C , CM000678.2:g.50722699G>C	GRCh38
NC_000016.9:g.50756610G>C , CM000678.1:g.50756610G>C	GRCh37
NC_000016.8:g.49314111G>C	NCBI36
NG_007508.1:g.30561G>C , LRG_177:g.30561G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7119G>C	ENSP00000493088.1:n.2382-7119G>C
ENST00000646677.2:c.*476G>C	ENSP00000496533.1:n.*476G>C
ENST00000697425.1:c.538G>C
ENST00000697426.1:c.426G>C
ENST00000697427.1:c.342G>C
ENST00000697428.1:n.2189G>C
ENST00000641284.1:c.2382-7119G>C	ENSP00000493088.1:n.2382-7119G>C
ENST00000646677.1:c.*476G>C	ENSP00000496533.1:n.*476G>C
ENST00000647318.2:c.2711G>C MANE Select	ENSP00000495993.1:p.Trp904Ser
ENST00000300589.6:c.2792G>C	ENSP00000300589.2:p.Trp931Ser
ENST00000524712.5:c.286G>C
ENST00000527052.5:c.258G>C
ENST00000529633.5:c.370G>C
ENST00000534057.1:c.426G>C
ENST00000534067.5:c.522G>C
NM_001293557.1:c.2711G>C	NP_001280486.1:p.Trp904Ser
NM_022162.2:c.2792G>C	NP_071445.1:p.Trp931Ser
XM_005256084.2:c.2711G>C	XP_005256141.1:p.Trp904Ser
XM_006721242.2:c.2627G>C	XP_006721305.1:p.Trp876Ser
XM_011523257.1:c.2288G>C	XP_011521559.1:p.Trp763Ser
XM_011523258.1:c.2288G>C	XP_011521560.1:p.Trp763Ser
XM_011523259.1:c.2126G>C	XP_011521561.1:p.Trp709Ser
XR_429725.2:n.2633G>C
XR_429726.2:n.2549G>C
XR_933387.1:n.2829G>C
XM_005256084.4:c.2711G>C	XP_005256141.1:p.Trp904Ser
XM_006721242.4:c.2627G>C	XP_006721305.1:p.Trp876Ser
XM_011523259.2:c.2126G>C	XP_011521561.1:p.Trp709Ser
XM_017023535.1:c.2219G>C	XP_016879024.1:p.Trp740Ser
XM_017023536.1:c.2126G>C	XP_016879025.1:p.Trp709Ser
XM_017023537.1:c.2126G>C	XP_016879026.1:p.Trp709Ser
XM_017023538.1:c.2126G>C	XP_016879027.1:p.Trp709Ser
XR_429725.3:n.2586G>C
XR_429726.3:n.2502G>C
XR_933387.2:n.2782G>C
NM_001293557.2:c.2711G>C	NP_001280486.1:p.Trp904Ser
NM_001370466.1:c.2711G>C MANE Select	NP_001357395.1:p.Trp904Ser
NM_022162.3:c.2792G>C	NP_071445.1:p.Trp931Ser
NR_163434.1:n.2923G>C