Canonical Allele Identifier: CA2633167730

Gene: NOD2

Linked Data

• gnomAD v4: 16-50729941-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729942_50729943del , CM000678.2:g.50729942_50729943del	GRCh38
NC_000016.9:g.50763853_50763854del , CM000678.1:g.50763853_50763854del	GRCh37
NC_000016.8:g.49321354_49321355del	NCBI36
NG_007508.1:g.37804_37805del , LRG_177:g.37804_37805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*83+41_*83+42del	ENSP00000493088.1:n.*83+41_*83+42del
ENST00000646677.2:c.*734+41_*734+42del	ENSP00000496533.1:n.*734+41_*734+42del
ENST00000697428.1:n.2447+41_2447+42del
ENST00000641284.1:c.*83+41_*83+42del	ENSP00000493088.1:n.*83+41_*83+42del
ENST00000646677.1:c.*734+41_*734+42del	ENSP00000496533.1:n.*734+41_*734+42del
ENST00000647318.2:c.2969+41_2969+42del MANE Select	ENSP00000495993.1:n.2969+41_2969+42del
ENST00000300589.6:c.3050+41_3050+42del	ENSP00000300589.2:n.3050+41_3050+42del
NM_001293557.1:c.2969+41_2969+42del	NP_001280486.1:n.2969+41_2969+42del
NM_022162.2:c.3050+41_3050+42del	NP_071445.1:n.3050+41_3050+42del
XM_005256084.2:c.2969+41_2969+42del	XP_005256141.1:n.2969+41_2969+42del
XM_006721242.2:c.2885+41_2885+42del	XP_006721305.1:n.2885+41_2885+42del
XM_011523257.1:c.2546+41_2546+42del	XP_011521559.1:n.2546+41_2546+42del
XM_011523258.1:c.2546+41_2546+42del	XP_011521560.1:n.2546+41_2546+42del
XM_011523259.1:c.2384+41_2384+42del	XP_011521561.1:n.2384+41_2384+42del
XM_005256084.4:c.2969+41_2969+42del	XP_005256141.1:n.2969+41_2969+42del
XM_006721242.4:c.2885+41_2885+42del	XP_006721305.1:n.2885+41_2885+42del
XM_011523259.2:c.2384+41_2384+42del	XP_011521561.1:n.2384+41_2384+42del
XM_017023535.1:c.2477+41_2477+42del	XP_016879024.1:n.2477+41_2477+42del
XM_017023536.1:c.2384+41_2384+42del	XP_016879025.1:n.2384+41_2384+42del
XM_017023537.1:c.2384+41_2384+42del	XP_016879026.1:n.2384+41_2384+42del
XM_017023538.1:c.2384+41_2384+42del	XP_016879027.1:n.2384+41_2384+42del
NM_001293557.2:c.2969+41_2969+42del	NP_001280486.1:n.2969+41_2969+42del
NM_001370466.1:c.2969+41_2969+42del MANE Select	NP_001357395.1:n.2969+41_2969+42del
NM_022162.3:c.3050+41_3050+42del	NP_071445.1:n.3050+41_3050+42del
NR_163434.1:n.3181+41_3181+42del