Canonical Allele Identifier: CA495778113

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50733685T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699774T>C , CM000678.2:g.50699774T>C	GRCh38
NC_000016.9:g.50733685T>C , CM000678.1:g.50733685T>C	GRCh37
NC_000016.8:g.49291186T>C	NCBI36
NG_007508.1:g.7636T>C , LRG_177:g.7636T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.279T>C	ENSP00000493088.1:p.His93=
ENST00000646677.2:c.279T>C	ENSP00000496533.1:p.His93=
ENST00000641284.1:c.279T>C	ENSP00000493088.1:p.His93=
ENST00000646677.1:c.279T>C	ENSP00000496533.1:p.His93=
ENST00000647318.2:c.279T>C MANE Select	ENSP00000495993.1:p.His93=
ENST00000300589.6:c.360T>C	ENSP00000300589.2:p.His120=
ENST00000526417.6:n.347T>C
ENST00000527070.5:c.*975T>C	ENSP00000435149.1:n.*975T>C
ENST00000531674.1:c.279T>C	ENSP00000431681.1:p.His93=
ENST00000532206.1:n.464T>C
NM_001293557.1:c.279T>C	NP_001280486.1:p.His93=
NM_022162.2:c.360T>C	NP_071445.1:p.His120=
XM_005256084.2:c.279T>C	XP_005256141.1:p.His93=
XM_006721242.2:c.279T>C	XP_006721305.1:p.His93=
XM_006721243.2:c.279T>C	XP_006721306.1:p.His93=
XM_011523258.1:c.-38+6112T>C	XP_011521560.1:n.-38+6112T>C
XM_011523259.1:c.-201T>C	XP_011521561.1:n.-201T>C
XM_011523260.1:c.279T>C	XP_011521562.1:p.His93=
XM_011523261.1:c.279T>C	XP_011521563.1:p.His93=
XR_429725.2:n.369T>C
XR_429726.2:n.369T>C
XR_933387.1:n.369T>C
XM_005256084.4:c.279T>C	XP_005256141.1:p.His93=
XM_006721242.4:c.279T>C	XP_006721305.1:p.His93=
XM_006721243.4:c.279T>C	XP_006721306.1:p.His93=
XM_011523259.2:c.-201T>C	XP_011521561.1:n.-201T>C
XM_011523260.3:c.279T>C	XP_011521562.1:p.His93=
XM_011523261.2:c.279T>C	XP_011521563.1:p.His93=
XM_017023536.1:c.-127+6112T>C	XP_016879025.1:n.-127+6112T>C
XM_017023537.1:c.-21+6112T>C	XP_016879026.1:n.-21+6112T>C
XR_429725.3:n.322T>C
XR_429726.3:n.322T>C
XR_933387.2:n.322T>C
NM_001293557.2:c.279T>C	NP_001280486.1:p.His93=
NM_001370466.1:c.279T>C MANE Select	NP_001357395.1:p.His93=
NM_022162.3:c.360T>C	NP_071445.1:p.His120=
NR_163434.1:n.344T>C