Canonical Allele Identifier: CA395868078

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50744849C>A (hg19) ; chr16:g.50710938C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710938C>A , CM000678.2:g.50710938C>A	GRCh38
NC_000016.9:g.50744849C>A , CM000678.1:g.50744849C>A	GRCh37
NC_000016.8:g.49302350C>A	NCBI36
NG_007508.1:g.18800C>A , LRG_177:g.18800C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.946C>A	ENSP00000493088.1:p.Leu316Ile
ENST00000646677.2:c.946C>A	ENSP00000496533.1:p.Leu316Ile
ENST00000641284.1:c.946C>A	ENSP00000493088.1:p.Leu316Ile
ENST00000646677.1:c.946C>A	ENSP00000496533.1:p.Leu316Ile
ENST00000647318.2:c.946C>A MANE Select	ENSP00000495993.1:p.Leu316Ile
ENST00000300589.6:c.1027C>A	ENSP00000300589.2:p.Leu343Ile
ENST00000526417.6:n.1087C>A
NM_001293557.1:c.946C>A	NP_001280486.1:p.Leu316Ile
NM_022162.2:c.1027C>A	NP_071445.1:p.Leu343Ile
XM_005256084.2:c.946C>A	XP_005256141.1:p.Leu316Ile
XM_006721242.2:c.946C>A	XP_006721305.1:p.Leu316Ile
XM_006721243.2:c.946C>A	XP_006721306.1:p.Leu316Ile
XM_011523257.1:c.523C>A	XP_011521559.1:p.Leu175Ile
XM_011523258.1:c.523C>A	XP_011521560.1:p.Leu175Ile
XM_011523259.1:c.361C>A	XP_011521561.1:p.Leu121Ile
XM_011523260.1:c.946C>A	XP_011521562.1:p.Leu316Ile
XM_011523261.1:c.946C>A	XP_011521563.1:p.Leu316Ile
XR_429725.2:n.1036C>A
XR_429726.2:n.1036C>A
XR_933387.1:n.1036C>A
XM_005256084.4:c.946C>A	XP_005256141.1:p.Leu316Ile
XM_006721242.4:c.946C>A	XP_006721305.1:p.Leu316Ile
XM_006721243.4:c.946C>A	XP_006721306.1:p.Leu316Ile
XM_011523259.2:c.361C>A	XP_011521561.1:p.Leu121Ile
XM_011523260.3:c.946C>A	XP_011521562.1:p.Leu316Ile
XM_011523261.2:c.946C>A	XP_011521563.1:p.Leu316Ile
XM_017023535.1:c.454C>A	XP_016879024.1:p.Leu152Ile
XM_017023536.1:c.361C>A	XP_016879025.1:p.Leu121Ile
XM_017023537.1:c.361C>A	XP_016879026.1:p.Leu121Ile
XM_017023538.1:c.361C>A	XP_016879027.1:p.Leu121Ile
XR_429725.3:n.989C>A
XR_429726.3:n.989C>A
XR_933387.2:n.989C>A
NM_001293557.2:c.946C>A	NP_001280486.1:p.Leu316Ile
NM_001370466.1:c.946C>A MANE Select	NP_001357395.1:p.Leu316Ile
NM_022162.3:c.1027C>A	NP_071445.1:p.Leu343Ile
NR_163434.1:n.1011C>A