Canonical Allele Identifier: CA431952515

Gene: CHRND

Linked Data

• dbSNP Id: rs1283984749
• gnomAD v2: 2-233398721-G-A
• gnomAD v3: 2-232534011-G-A
• gnomAD v4: 2-232534011-G-A
• MyVariant Identifiers: chr2:g.233398721G>A (hg19) ; chr2:g.232534011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534011G>A , CM000664.2:g.232534011G>A	GRCh38
NC_000002.11:g.233398721G>A , CM000664.1:g.233398721G>A	GRCh37
NC_000002.10:g.233106965G>A	NCBI36
NG_008028.1:g.12800G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1128G>A MANE Select	ENSP00000258385.3:p.Arg376=
ENST00000258385.7:c.1128G>A	ENSP00000258385.3:p.Arg376=
ENST00000441621.6:c.*310G>A	ENSP00000408819.2:n.*310G>A
ENST00000446616.1:c.*769G>A	ENSP00000410801.1:n.*769G>A
ENST00000543200.5:c.1083G>A	ENSP00000438380.1:p.Arg361=
NM_000751.2:c.1128G>A	NP_000742.1:p.Arg376=
NM_001256657.1:c.1083G>A	NP_001243586.1:p.Arg361=
NM_001311195.1:c.546G>A	NP_001298124.1:p.Arg182=
NM_001311196.1:c.825G>A	NP_001298125.1:p.Arg275=
NR_046333.1:c.-4294966423G>A
NR_046334.1:c.-4294966144G>A
XM_011510524.1:c.747G>A	XP_011508826.1:p.Arg249=
XM_011510524.2:c.747G>A	XP_011508826.1:p.Arg249=
NM_000751.3:c.1128G>A MANE Select	NP_000742.1:p.Arg376=
NM_001311195.2:c.546G>A	NP_001298124.1:p.Arg182=
NM_001311196.2:c.825G>A	NP_001298125.1:p.Arg275=
NM_001256657.2:c.1083G>A	NP_001243586.1:p.Arg361=