Canonical Allele Identifier: CA721364969

Gene: NOD2

Linked Data

• dbSNP Id: rs1479033063
• gnomAD v3: 16-50731727-G-T
• gnomAD v4: 16-50731727-G-T
• MyVariant Identifiers: chr16:g.50765638G>T (hg19) ; chr16:g.50731727G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50731727G>T , CM000678.2:g.50731727G>T	GRCh38
NC_000016.9:g.50765638G>T , CM000678.1:g.50765638G>T	GRCh37
NC_000016.8:g.49323139G>T	NCBI36
NG_007508.1:g.39589G>T , LRG_177:g.39589G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*84-20G>T	ENSP00000493088.1:n.*84-20G>T
ENST00000646677.2:c.*735-20G>T	ENSP00000496533.1:n.*735-20G>T
ENST00000697428.1:n.2448-20G>T
ENST00000641284.1:c.*84-20G>T	ENSP00000493088.1:n.*84-20G>T
ENST00000646677.1:c.*735-20G>T	ENSP00000496533.1:n.*735-20G>T
ENST00000647318.2:c.2970-20G>T MANE Select	ENSP00000495993.1:n.2970-20G>T
ENST00000300589.6:c.3051-20G>T	ENSP00000300589.2:n.3051-20G>T
NM_001293557.1:c.2970-20G>T	NP_001280486.1:n.2970-20G>T
NM_022162.2:c.3051-20G>T	NP_071445.1:n.3051-20G>T
XM_005256084.2:c.2970-20G>T	XP_005256141.1:n.2970-20G>T
XM_006721242.2:c.2886-20G>T	XP_006721305.1:n.2886-20G>T
XM_011523257.1:c.2547-20G>T	XP_011521559.1:n.2547-20G>T
XM_011523258.1:c.2547-20G>T	XP_011521560.1:n.2547-20G>T
XM_011523259.1:c.2385-20G>T	XP_011521561.1:n.2385-20G>T
XM_005256084.4:c.2970-20G>T	XP_005256141.1:n.2970-20G>T
XM_006721242.4:c.2886-20G>T	XP_006721305.1:n.2886-20G>T
XM_011523259.2:c.2385-20G>T	XP_011521561.1:n.2385-20G>T
XM_017023535.1:c.2478-20G>T	XP_016879024.1:n.2478-20G>T
XM_017023536.1:c.2385-20G>T	XP_016879025.1:n.2385-20G>T
XM_017023537.1:c.2385-20G>T	XP_016879026.1:n.2385-20G>T
XM_017023538.1:c.2385-20G>T	XP_016879027.1:n.2385-20G>T
NM_001293557.2:c.2970-20G>T	NP_001280486.1:n.2970-20G>T
NM_001370466.1:c.2970-20G>T MANE Select	NP_001357395.1:n.2970-20G>T
NM_022162.3:c.3051-20G>T	NP_071445.1:n.3051-20G>T
NR_163434.1:n.3182-20G>T