Canonical Allele Identifier: CA395876889

Gene: NOD2

Linked Data

• gnomAD v4: 16-50729882-G-C
• MyVariant Identifiers: chr16:g.50763793G>C (hg19) ; chr16:g.50729882G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729882G>C , CM000678.2:g.50729882G>C	GRCh38
NC_000016.9:g.50763793G>C , CM000678.1:g.50763793G>C	GRCh37
NC_000016.8:g.49321294G>C	NCBI36
NG_007508.1:g.37744G>C , LRG_177:g.37744G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*64G>C	ENSP00000493088.1:n.*64G>C
ENST00000646677.2:c.*715G>C	ENSP00000496533.1:n.*715G>C
ENST00000697428.1:n.2428G>C
ENST00000641284.1:c.*64G>C	ENSP00000493088.1:n.*64G>C
ENST00000646677.1:c.*715G>C	ENSP00000496533.1:n.*715G>C
ENST00000647318.2:c.2950G>C MANE Select	ENSP00000495993.1:p.Asp984His
ENST00000300589.6:c.3031G>C	ENSP00000300589.2:p.Asp1011His
NM_001293557.1:c.2950G>C	NP_001280486.1:p.Asp984His
NM_022162.2:c.3031G>C	NP_071445.1:p.Asp1011His
XM_005256084.2:c.2950G>C	XP_005256141.1:p.Asp984His
XM_006721242.2:c.2866G>C	XP_006721305.1:p.Asp956His
XM_011523257.1:c.2527G>C	XP_011521559.1:p.Asp843His
XM_011523258.1:c.2527G>C	XP_011521560.1:p.Asp843His
XM_011523259.1:c.2365G>C	XP_011521561.1:p.Asp789His
XM_005256084.4:c.2950G>C	XP_005256141.1:p.Asp984His
XM_006721242.4:c.2866G>C	XP_006721305.1:p.Asp956His
XM_011523259.2:c.2365G>C	XP_011521561.1:p.Asp789His
XM_017023535.1:c.2458G>C	XP_016879024.1:p.Asp820His
XM_017023536.1:c.2365G>C	XP_016879025.1:p.Asp789His
XM_017023537.1:c.2365G>C	XP_016879026.1:p.Asp789His
XM_017023538.1:c.2365G>C	XP_016879027.1:p.Asp789His
NM_001293557.2:c.2950G>C	NP_001280486.1:p.Asp984His
NM_001370466.1:c.2950G>C MANE Select	NP_001357395.1:p.Asp984His
NM_022162.3:c.3031G>C	NP_071445.1:p.Asp1011His
NR_163434.1:n.3162G>C