Canonical Allele Identifier: CA431952405

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534243-T-G
• MyVariant Identifiers: chr2:g.233398953T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534243T>G , CM000664.2:g.232534243T>G	GRCh38
NC_000002.11:g.233398953T>G , CM000664.1:g.233398953T>G	GRCh37
NC_000002.10:g.233107197T>G	NCBI36
NG_008028.1:g.13032T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1272T>G MANE Select	ENSP00000258385.3:p.Ser424=
ENST00000258385.7:c.1272T>G	ENSP00000258385.3:p.Ser424=
ENST00000441621.6:c.*454T>G	ENSP00000408819.2:n.*454T>G
ENST00000446616.1:c.*913T>G	ENSP00000410801.1:n.*913T>G
ENST00000543200.5:c.1227T>G	ENSP00000438380.1:p.Ser409=
NM_000751.2:c.1272T>G	NP_000742.1:p.Ser424=
NM_001256657.1:c.1227T>G	NP_001243586.1:p.Ser409=
NM_001311195.1:c.690T>G	NP_001298124.1:p.Ser230=
NM_001311196.1:c.969T>G	NP_001298125.1:p.Ser323=
NR_046333.1:c.-4294966279T>G
NR_046334.1:c.-4294966000T>G
XM_011510524.1:c.891T>G	XP_011508826.1:p.Ser297=
XM_011510524.2:c.891T>G	XP_011508826.1:p.Ser297=
NM_000751.3:c.1272T>G MANE Select	NP_000742.1:p.Ser424=
NM_001311195.2:c.690T>G	NP_001298124.1:p.Ser230=
NM_001311196.2:c.969T>G	NP_001298125.1:p.Ser323=
NM_001256657.2:c.1227T>G	NP_001243586.1:p.Ser409=