Canonical Allele Identifier: CA431952409

Gene: CHRND

Linked Data

• dbSNP Id: rs1406141767
• gnomAD v2: 2-233398962-C-G
• gnomAD v4: 2-232534252-C-G
• MyVariant Identifiers: chr2:g.233398962C>G (hg19) ; chr2:g.232534252C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534252C>G , CM000664.2:g.232534252C>G	GRCh38
NC_000002.11:g.233398962C>G , CM000664.1:g.233398962C>G	GRCh37
NC_000002.10:g.233107206C>G	NCBI36
NG_008028.1:g.13041C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1281C>G MANE Select	ENSP00000258385.3:p.Ala427=
ENST00000258385.7:c.1281C>G	ENSP00000258385.3:p.Ala427=
ENST00000441621.6:c.*463C>G	ENSP00000408819.2:n.*463C>G
ENST00000446616.1:c.*922C>G	ENSP00000410801.1:n.*922C>G
ENST00000543200.5:c.1236C>G	ENSP00000438380.1:p.Ala412=
NM_000751.2:c.1281C>G	NP_000742.1:p.Ala427=
NM_001256657.1:c.1236C>G	NP_001243586.1:p.Ala412=
NM_001311195.1:c.699C>G	NP_001298124.1:p.Ala233=
NM_001311196.1:c.978C>G	NP_001298125.1:p.Ala326=
NR_046333.1:c.-4294966270C>G
NR_046334.1:c.-4294965991C>G
XM_011510524.1:c.900C>G	XP_011508826.1:p.Ala300=
XM_011510524.2:c.900C>G	XP_011508826.1:p.Ala300=
NM_000751.3:c.1281C>G MANE Select	NP_000742.1:p.Ala427=
NM_001311195.2:c.699C>G	NP_001298124.1:p.Ala233=
NM_001311196.2:c.978C>G	NP_001298125.1:p.Ala326=
NM_001256657.2:c.1236C>G	NP_001243586.1:p.Ala412=