Canonical Allele Identifier: CA351005105

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534021-T-G
• MyVariant Identifiers: chr2:g.233398731T>G (hg19) ; chr2:g.232534021T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534021T>G , CM000664.2:g.232534021T>G	GRCh38
NC_000002.11:g.233398731T>G , CM000664.1:g.233398731T>G	GRCh37
NC_000002.10:g.233106975T>G	NCBI36
NG_008028.1:g.12810T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1138T>G MANE Select	ENSP00000258385.3:p.Ser380Ala
ENST00000258385.7:c.1138T>G	ENSP00000258385.3:p.Ser380Ala
ENST00000441621.6:c.*320T>G	ENSP00000408819.2:n.*320T>G
ENST00000446616.1:c.*779T>G	ENSP00000410801.1:n.*779T>G
ENST00000543200.5:c.1093T>G	ENSP00000438380.1:p.Ser365Ala
NM_000751.2:c.1138T>G	NP_000742.1:p.Ser380Ala
NM_001256657.1:c.1093T>G	NP_001243586.1:p.Ser365Ala
NM_001311195.1:c.556T>G	NP_001298124.1:p.Ser186Ala
NM_001311196.1:c.835T>G	NP_001298125.1:p.Ser279Ala
NR_046333.1:c.-4294966413T>G
NR_046334.1:c.-4294966134T>G
XM_011510524.1:c.757T>G	XP_011508826.1:p.Ser253Ala
XM_011510524.2:c.757T>G	XP_011508826.1:p.Ser253Ala
NM_000751.3:c.1138T>G MANE Select	NP_000742.1:p.Ser380Ala
NM_001311195.2:c.556T>G	NP_001298124.1:p.Ser186Ala
NM_001311196.2:c.835T>G	NP_001298125.1:p.Ser279Ala
NM_001256657.2:c.1093T>G	NP_001243586.1:p.Ser365Ala