Canonical Allele Identifier: CA351005057

Gene: CHRND

Linked Data

• dbSNP Id: rs1273108752
• gnomAD v2: 2-233398707-G-A
• gnomAD v4: 2-232533997-G-A
• MyVariant Identifiers: chr2:g.233398707G>A (hg19) ; chr2:g.232533997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232533997G>A , CM000664.2:g.232533997G>A	GRCh38
NC_000002.11:g.233398707G>A , CM000664.1:g.233398707G>A	GRCh37
NC_000002.10:g.233106951G>A	NCBI36
NG_008028.1:g.12786G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1114G>A MANE Select	ENSP00000258385.3:p.Gly372Arg
ENST00000258385.7:c.1114G>A	ENSP00000258385.3:p.Gly372Arg
ENST00000441621.6:c.*296G>A	ENSP00000408819.2:n.*296G>A
ENST00000446616.1:c.*755G>A	ENSP00000410801.1:n.*755G>A
ENST00000543200.5:c.1069G>A	ENSP00000438380.1:p.Gly357Arg
NM_000751.2:c.1114G>A	NP_000742.1:p.Gly372Arg
NM_001256657.1:c.1069G>A	NP_001243586.1:p.Gly357Arg
NM_001311195.1:c.532G>A	NP_001298124.1:p.Gly178Arg
NM_001311196.1:c.811G>A	NP_001298125.1:p.Gly271Arg
NR_046333.1:c.-4294966437G>A
NR_046334.1:c.-4294966158G>A
XM_011510524.1:c.733G>A	XP_011508826.1:p.Gly245Arg
XM_011510524.2:c.733G>A	XP_011508826.1:p.Gly245Arg
NM_000751.3:c.1114G>A MANE Select	NP_000742.1:p.Gly372Arg
NM_001311195.2:c.532G>A	NP_001298124.1:p.Gly178Arg
NM_001311196.2:c.811G>A	NP_001298125.1:p.Gly271Arg
NM_001256657.2:c.1069G>A	NP_001243586.1:p.Gly357Arg