Canonical Allele Identifier: CA351005296

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534109-G-C
• MyVariant Identifiers: chr2:g.233398819G>C (hg19) ; chr2:g.232534109G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534109G>C , CM000664.2:g.232534109G>C	GRCh38
NC_000002.11:g.233398819G>C , CM000664.1:g.233398819G>C	GRCh37
NC_000002.10:g.233107063G>C	NCBI36
NG_008028.1:g.12898G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1226G>C MANE Select	ENSP00000258385.3:p.Gly409Ala
ENST00000258385.7:c.1226G>C	ENSP00000258385.3:p.Gly409Ala
ENST00000441621.6:c.*408G>C	ENSP00000408819.2:n.*408G>C
ENST00000446616.1:c.*867G>C	ENSP00000410801.1:n.*867G>C
ENST00000543200.5:c.1181G>C	ENSP00000438380.1:p.Gly394Ala
NM_000751.2:c.1226G>C	NP_000742.1:p.Gly409Ala
NM_001256657.1:c.1181G>C	NP_001243586.1:p.Gly394Ala
NM_001311195.1:c.644G>C	NP_001298124.1:p.Gly215Ala
NM_001311196.1:c.923G>C	NP_001298125.1:p.Gly308Ala
NR_046333.1:c.-4294966325G>C
NR_046334.1:c.-4294966046G>C
XM_011510524.1:c.845G>C	XP_011508826.1:p.Gly282Ala
XM_011510524.2:c.845G>C	XP_011508826.1:p.Gly282Ala
NM_000751.3:c.1226G>C MANE Select	NP_000742.1:p.Gly409Ala
NM_001311195.2:c.644G>C	NP_001298124.1:p.Gly215Ala
NM_001311196.2:c.923G>C	NP_001298125.1:p.Gly308Ala
NM_001256657.2:c.1181G>C	NP_001243586.1:p.Gly394Ala