Canonical Allele Identifier: CA495473496

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756606A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722695A>C , CM000678.2:g.50722695A>C	GRCh38
NC_000016.9:g.50756606A>C , CM000678.1:g.50756606A>C	GRCh37
NC_000016.8:g.49314107A>C	NCBI36
NG_007508.1:g.30557A>C , LRG_177:g.30557A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7123A>C	ENSP00000493088.1:n.2382-7123A>C
ENST00000646677.2:c.*472A>C	ENSP00000496533.1:n.*472A>C
ENST00000697425.1:c.534A>C
ENST00000697426.1:c.422A>C
ENST00000697427.1:c.338A>C
ENST00000697428.1:n.2185A>C
ENST00000641284.1:c.2382-7123A>C	ENSP00000493088.1:n.2382-7123A>C
ENST00000646677.1:c.*472A>C	ENSP00000496533.1:n.*472A>C
ENST00000647318.2:c.2707A>C MANE Select	ENSP00000495993.1:p.Arg903=
ENST00000300589.6:c.2788A>C	ENSP00000300589.2:p.Arg930=
ENST00000524712.5:c.282A>C
ENST00000527052.5:c.254A>C
ENST00000529633.5:c.366A>C
ENST00000534057.1:c.422A>C
ENST00000534067.5:c.518A>C
NM_001293557.1:c.2707A>C	NP_001280486.1:p.Arg903=
NM_022162.2:c.2788A>C	NP_071445.1:p.Arg930=
XM_005256084.2:c.2707A>C	XP_005256141.1:p.Arg903=
XM_006721242.2:c.2623A>C	XP_006721305.1:p.Arg875=
XM_011523257.1:c.2284A>C	XP_011521559.1:p.Arg762=
XM_011523258.1:c.2284A>C	XP_011521560.1:p.Arg762=
XM_011523259.1:c.2122A>C	XP_011521561.1:p.Arg708=
XR_429725.2:n.2629A>C
XR_429726.2:n.2545A>C
XR_933387.1:n.2825A>C
XM_005256084.4:c.2707A>C	XP_005256141.1:p.Arg903=
XM_006721242.4:c.2623A>C	XP_006721305.1:p.Arg875=
XM_011523259.2:c.2122A>C	XP_011521561.1:p.Arg708=
XM_017023535.1:c.2215A>C	XP_016879024.1:p.Arg739=
XM_017023536.1:c.2122A>C	XP_016879025.1:p.Arg708=
XM_017023537.1:c.2122A>C	XP_016879026.1:p.Arg708=
XM_017023538.1:c.2122A>C	XP_016879027.1:p.Arg708=
XR_429725.3:n.2582A>C
XR_429726.3:n.2498A>C
XR_933387.2:n.2778A>C
NM_001293557.2:c.2707A>C	NP_001280486.1:p.Arg903=
NM_001370466.1:c.2707A>C MANE Select	NP_001357395.1:p.Arg903=
NM_022162.3:c.2788A>C	NP_071445.1:p.Arg930=
NR_163434.1:n.2919A>C