Canonical Allele Identifier: CA395877014

Gene: NOD2

Linked Data

• gnomAD v4: 16-50731748-C-A
• MyVariant Identifiers: chr16:g.50765659C>A (hg19) ; chr16:g.50731748C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50731748C>A , CM000678.2:g.50731748C>A	GRCh38
NC_000016.9:g.50765659C>A , CM000678.1:g.50765659C>A	GRCh37
NC_000016.8:g.49323160C>A	NCBI36
NG_007508.1:g.39610C>A , LRG_177:g.39610C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*85C>A	ENSP00000493088.1:n.*85C>A
ENST00000646677.2:c.*736C>A	ENSP00000496533.1:n.*736C>A
ENST00000697428.1:n.2449C>A
ENST00000641284.1:c.*85C>A	ENSP00000493088.1:n.*85C>A
ENST00000646677.1:c.*736C>A	ENSP00000496533.1:n.*736C>A
ENST00000647318.2:c.2971C>A MANE Select	ENSP00000495993.1:p.Leu991Ile
ENST00000300589.6:c.3052C>A	ENSP00000300589.2:p.Leu1018Ile
NM_001293557.1:c.2971C>A	NP_001280486.1:p.Leu991Ile
NM_022162.2:c.3052C>A	NP_071445.1:p.Leu1018Ile
XM_005256084.2:c.2971C>A	XP_005256141.1:p.Leu991Ile
XM_006721242.2:c.2887C>A	XP_006721305.1:p.Leu963Ile
XM_011523257.1:c.2548C>A	XP_011521559.1:p.Leu850Ile
XM_011523258.1:c.2548C>A	XP_011521560.1:p.Leu850Ile
XM_011523259.1:c.2386C>A	XP_011521561.1:p.Leu796Ile
XM_005256084.4:c.2971C>A	XP_005256141.1:p.Leu991Ile
XM_006721242.4:c.2887C>A	XP_006721305.1:p.Leu963Ile
XM_011523259.2:c.2386C>A	XP_011521561.1:p.Leu796Ile
XM_017023535.1:c.2479C>A	XP_016879024.1:p.Leu827Ile
XM_017023536.1:c.2386C>A	XP_016879025.1:p.Leu796Ile
XM_017023537.1:c.2386C>A	XP_016879026.1:p.Leu796Ile
XM_017023538.1:c.2386C>A	XP_016879027.1:p.Leu796Ile
NM_001293557.2:c.2971C>A	NP_001280486.1:p.Leu991Ile
NM_001370466.1:c.2971C>A MANE Select	NP_001357395.1:p.Leu991Ile
NM_022162.3:c.3052C>A	NP_071445.1:p.Leu1018Ile
NR_163434.1:n.3183C>A