Canonical Allele Identifier: CA351005212

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534072-A-G
• MyVariant Identifiers: chr2:g.233398782A>G (hg19) ; chr2:g.232534072A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534072A>G , CM000664.2:g.232534072A>G	GRCh38
NC_000002.11:g.233398782A>G , CM000664.1:g.233398782A>G	GRCh37
NC_000002.10:g.233107026A>G	NCBI36
NG_008028.1:g.12861A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1189A>G MANE Select	ENSP00000258385.3:p.Ser397Gly
ENST00000258385.7:c.1189A>G	ENSP00000258385.3:p.Ser397Gly
ENST00000441621.6:c.*371A>G	ENSP00000408819.2:n.*371A>G
ENST00000446616.1:c.*830A>G	ENSP00000410801.1:n.*830A>G
ENST00000543200.5:c.1144A>G	ENSP00000438380.1:p.Ser382Gly
NM_000751.2:c.1189A>G	NP_000742.1:p.Ser397Gly
NM_001256657.1:c.1144A>G	NP_001243586.1:p.Ser382Gly
NM_001311195.1:c.607A>G	NP_001298124.1:p.Ser203Gly
NM_001311196.1:c.886A>G	NP_001298125.1:p.Ser296Gly
NR_046333.1:c.-4294966362A>G
NR_046334.1:c.-4294966083A>G
XM_011510524.1:c.808A>G	XP_011508826.1:p.Ser270Gly
XM_011510524.2:c.808A>G	XP_011508826.1:p.Ser270Gly
NM_000751.3:c.1189A>G MANE Select	NP_000742.1:p.Ser397Gly
NM_001311195.2:c.607A>G	NP_001298124.1:p.Ser203Gly
NM_001311196.2:c.886A>G	NP_001298125.1:p.Ser296Gly
NM_001256657.2:c.1144A>G	NP_001243586.1:p.Ser382Gly