Canonical Allele Identifier: CA395876819

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50763777G>T (hg19) ; chr16:g.50729866G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729866G>T , CM000678.2:g.50729866G>T	GRCh38
NC_000016.9:g.50763777G>T , CM000678.1:g.50763777G>T	GRCh37
NC_000016.8:g.49321278G>T	NCBI36
NG_007508.1:g.37728G>T , LRG_177:g.37728G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*48G>T	ENSP00000493088.1:n.*48G>T
ENST00000646677.2:c.*699G>T	ENSP00000496533.1:n.*699G>T
ENST00000697428.1:n.2412G>T
ENST00000641284.1:c.*48G>T	ENSP00000493088.1:n.*48G>T
ENST00000646677.1:c.*699G>T	ENSP00000496533.1:n.*699G>T
ENST00000647318.2:c.2934G>T MANE Select	ENSP00000495993.1:p.Gln978His
ENST00000300589.6:c.3015G>T	ENSP00000300589.2:p.Gln1005His
NM_001293557.1:c.2934G>T	NP_001280486.1:p.Gln978His
NM_022162.2:c.3015G>T	NP_071445.1:p.Gln1005His
XM_005256084.2:c.2934G>T	XP_005256141.1:p.Gln978His
XM_006721242.2:c.2850G>T	XP_006721305.1:p.Gln950His
XM_011523257.1:c.2511G>T	XP_011521559.1:p.Gln837His
XM_011523258.1:c.2511G>T	XP_011521560.1:p.Gln837His
XM_011523259.1:c.2349G>T	XP_011521561.1:p.Gln783His
XM_005256084.4:c.2934G>T	XP_005256141.1:p.Gln978His
XM_006721242.4:c.2850G>T	XP_006721305.1:p.Gln950His
XM_011523259.2:c.2349G>T	XP_011521561.1:p.Gln783His
XM_017023535.1:c.2442G>T	XP_016879024.1:p.Gln814His
XM_017023536.1:c.2349G>T	XP_016879025.1:p.Gln783His
XM_017023537.1:c.2349G>T	XP_016879026.1:p.Gln783His
XM_017023538.1:c.2349G>T	XP_016879027.1:p.Gln783His
NM_001293557.2:c.2934G>T	NP_001280486.1:p.Gln978His
NM_001370466.1:c.2934G>T MANE Select	NP_001357395.1:p.Gln978His
NM_022162.3:c.3015G>T	NP_071445.1:p.Gln1005His
NR_163434.1:n.3146G>T