Canonical Allele Identifier: CA66957550

Gene: CHRND

Linked Data

• dbSNP Id: rs957347668
• gnomAD v2: 2-233398823-G-A
• gnomAD v4: 2-232534113-G-A
• MyVariant Identifiers: chr2:g.233398823G>A (hg19) ; chr2:g.232534113G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534113G>A , CM000664.2:g.232534113G>A	GRCh38
NC_000002.11:g.233398823G>A , CM000664.1:g.233398823G>A	GRCh37
NC_000002.10:g.233107067G>A	NCBI36
NG_008028.1:g.12902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1230G>A MANE Select	ENSP00000258385.3:p.Leu410=
ENST00000258385.7:c.1230G>A	ENSP00000258385.3:p.Leu410=
ENST00000441621.6:c.*412G>A	ENSP00000408819.2:n.*412G>A
ENST00000446616.1:c.*871G>A	ENSP00000410801.1:n.*871G>A
ENST00000543200.5:c.1185G>A	ENSP00000438380.1:p.Leu395=
NM_000751.2:c.1230G>A	NP_000742.1:p.Leu410=
NM_001256657.1:c.1185G>A	NP_001243586.1:p.Leu395=
NM_001311195.1:c.648G>A	NP_001298124.1:p.Leu216=
NM_001311196.1:c.927G>A	NP_001298125.1:p.Leu309=
NR_046333.1:c.-4294966321G>A
NR_046334.1:c.-4294966042G>A
XM_011510524.1:c.849G>A	XP_011508826.1:p.Leu283=
XM_011510524.2:c.849G>A	XP_011508826.1:p.Leu283=
NM_000751.3:c.1230G>A MANE Select	NP_000742.1:p.Leu410=
NM_001311195.2:c.648G>A	NP_001298124.1:p.Leu216=
NM_001311196.2:c.927G>A	NP_001298125.1:p.Leu309=
NM_001256657.2:c.1185G>A	NP_001243586.1:p.Leu395=