Canonical Allele Identifier: CA351005061

Gene: CHRND

Linked Data

• gnomAD v4: 2-232533998-G-C
• MyVariant Identifiers: chr2:g.233398708G>C (hg19) ; chr2:g.232533998G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232533998G>C , CM000664.2:g.232533998G>C	GRCh38
NC_000002.11:g.233398708G>C , CM000664.1:g.233398708G>C	GRCh37
NC_000002.10:g.233106952G>C	NCBI36
NG_008028.1:g.12787G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1115G>C MANE Select	ENSP00000258385.3:p.Gly372Ala
ENST00000258385.7:c.1115G>C	ENSP00000258385.3:p.Gly372Ala
ENST00000441621.6:c.*297G>C	ENSP00000408819.2:n.*297G>C
ENST00000446616.1:c.*756G>C	ENSP00000410801.1:n.*756G>C
ENST00000543200.5:c.1070G>C	ENSP00000438380.1:p.Gly357Ala
NM_000751.2:c.1115G>C	NP_000742.1:p.Gly372Ala
NM_001256657.1:c.1070G>C	NP_001243586.1:p.Gly357Ala
NM_001311195.1:c.533G>C	NP_001298124.1:p.Gly178Ala
NM_001311196.1:c.812G>C	NP_001298125.1:p.Gly271Ala
NR_046333.1:c.-4294966436G>C
NR_046334.1:c.-4294966157G>C
XM_011510524.1:c.734G>C	XP_011508826.1:p.Gly245Ala
XM_011510524.2:c.734G>C	XP_011508826.1:p.Gly245Ala
NM_000751.3:c.1115G>C MANE Select	NP_000742.1:p.Gly372Ala
NM_001311195.2:c.533G>C	NP_001298124.1:p.Gly178Ala
NM_001311196.2:c.812G>C	NP_001298125.1:p.Gly271Ala
NM_001256657.2:c.1070G>C	NP_001243586.1:p.Gly357Ala