Canonical Allele Identifier: CA395876629

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50763731T>C (hg19) ; chr16:g.50729820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729820T>C , CM000678.2:g.50729820T>C	GRCh38
NC_000016.9:g.50763731T>C , CM000678.1:g.50763731T>C	GRCh37
NC_000016.8:g.49321232T>C	NCBI36
NG_007508.1:g.37682T>C , LRG_177:g.37682T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*2T>C	ENSP00000493088.1:n.*2T>C
ENST00000646677.2:c.*653T>C	ENSP00000496533.1:n.*653T>C
ENST00000697428.1:n.2366T>C
ENST00000641284.1:c.*2T>C	ENSP00000493088.1:n.*2T>C
ENST00000646677.1:c.*653T>C	ENSP00000496533.1:n.*653T>C
ENST00000647318.2:c.2888T>C MANE Select	ENSP00000495993.1:p.Leu963Ser
ENST00000300589.6:c.2969T>C	ENSP00000300589.2:p.Leu990Ser
NM_001293557.1:c.2888T>C	NP_001280486.1:p.Leu963Ser
NM_022162.2:c.2969T>C	NP_071445.1:p.Leu990Ser
XM_005256084.2:c.2888T>C	XP_005256141.1:p.Leu963Ser
XM_006721242.2:c.2804T>C	XP_006721305.1:p.Leu935Ser
XM_011523257.1:c.2465T>C	XP_011521559.1:p.Leu822Ser
XM_011523258.1:c.2465T>C	XP_011521560.1:p.Leu822Ser
XM_011523259.1:c.2303T>C	XP_011521561.1:p.Leu768Ser
XM_005256084.4:c.2888T>C	XP_005256141.1:p.Leu963Ser
XM_006721242.4:c.2804T>C	XP_006721305.1:p.Leu935Ser
XM_011523259.2:c.2303T>C	XP_011521561.1:p.Leu768Ser
XM_017023535.1:c.2396T>C	XP_016879024.1:p.Leu799Ser
XM_017023536.1:c.2303T>C	XP_016879025.1:p.Leu768Ser
XM_017023537.1:c.2303T>C	XP_016879026.1:p.Leu768Ser
XM_017023538.1:c.2303T>C	XP_016879027.1:p.Leu768Ser
NM_001293557.2:c.2888T>C	NP_001280486.1:p.Leu963Ser
NM_001370466.1:c.2888T>C MANE Select	NP_001357395.1:p.Leu963Ser
NM_022162.3:c.2969T>C	NP_071445.1:p.Leu990Ser
NR_163434.1:n.3100T>C