Canonical Allele Identifier: CA395876893

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50763794A>C (hg19) ; chr16:g.50729883A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729883A>C , CM000678.2:g.50729883A>C	GRCh38
NC_000016.9:g.50763794A>C , CM000678.1:g.50763794A>C	GRCh37
NC_000016.8:g.49321295A>C	NCBI36
NG_007508.1:g.37745A>C , LRG_177:g.37745A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.*65A>C	ENSP00000493088.1:n.*65A>C
ENST00000646677.2:c.*716A>C	ENSP00000496533.1:n.*716A>C
ENST00000697428.1:n.2429A>C
ENST00000641284.1:c.*65A>C	ENSP00000493088.1:n.*65A>C
ENST00000646677.1:c.*716A>C	ENSP00000496533.1:n.*716A>C
ENST00000647318.2:c.2951A>C MANE Select	ENSP00000495993.1:p.Asp984Ala
ENST00000300589.6:c.3032A>C	ENSP00000300589.2:p.Asp1011Ala
NM_001293557.1:c.2951A>C	NP_001280486.1:p.Asp984Ala
NM_022162.2:c.3032A>C	NP_071445.1:p.Asp1011Ala
XM_005256084.2:c.2951A>C	XP_005256141.1:p.Asp984Ala
XM_006721242.2:c.2867A>C	XP_006721305.1:p.Asp956Ala
XM_011523257.1:c.2528A>C	XP_011521559.1:p.Asp843Ala
XM_011523258.1:c.2528A>C	XP_011521560.1:p.Asp843Ala
XM_011523259.1:c.2366A>C	XP_011521561.1:p.Asp789Ala
XM_005256084.4:c.2951A>C	XP_005256141.1:p.Asp984Ala
XM_006721242.4:c.2867A>C	XP_006721305.1:p.Asp956Ala
XM_011523259.2:c.2366A>C	XP_011521561.1:p.Asp789Ala
XM_017023535.1:c.2459A>C	XP_016879024.1:p.Asp820Ala
XM_017023536.1:c.2366A>C	XP_016879025.1:p.Asp789Ala
XM_017023537.1:c.2366A>C	XP_016879026.1:p.Asp789Ala
XM_017023538.1:c.2366A>C	XP_016879027.1:p.Asp789Ala
NM_001293557.2:c.2951A>C	NP_001280486.1:p.Asp984Ala
NM_001370466.1:c.2951A>C MANE Select	NP_001357395.1:p.Asp984Ala
NM_022162.3:c.3032A>C	NP_071445.1:p.Asp1011Ala
NR_163434.1:n.3163A>C