Canonical Allele Identifier: CA2168325

Gene: CHRND

Linked Data

• dbSNP Id: rs747534731
• ExAC: 2:233399020 A / C
• gnomAD v2: 2-233399020-A-C
• gnomAD v4: 2-232534310-A-C
• MyVariant Identifiers: chr2:g.233399020A>C (hg19) ; chr2:g.232534310A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534310A>C , CM000664.2:g.232534310A>C	GRCh38
NC_000002.11:g.233399020A>C , CM000664.1:g.233399020A>C	GRCh37
NC_000002.10:g.233107264A>C	NCBI36
NG_008028.1:g.13099A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1339A>C MANE Select	ENSP00000258385.3:p.Asn447His
ENST00000258385.7:c.1339A>C	ENSP00000258385.3:p.Asn447His
ENST00000441621.6:c.*521A>C	ENSP00000408819.2:n.*521A>C
ENST00000446616.1:c.*980A>C	ENSP00000410801.1:n.*980A>C
ENST00000543200.5:c.1294A>C	ENSP00000438380.1:p.Asn432His
NM_000751.2:c.1339A>C	NP_000742.1:p.Asn447His
NM_001256657.1:c.1294A>C	NP_001243586.1:p.Asn432His
NM_001311195.1:c.757A>C	NP_001298124.1:p.Asn253His
NM_001311196.1:c.1036A>C	NP_001298125.1:p.Asn346His
NR_046333.1:c.-4294966212A>C
NR_046334.1:c.-4294965933A>C
XM_011510524.1:c.958A>C	XP_011508826.1:p.Asn320His
XM_011510524.2:c.958A>C	XP_011508826.1:p.Asn320His
NM_000751.3:c.1339A>C MANE Select	NP_000742.1:p.Asn447His
NM_001311195.2:c.757A>C	NP_001298124.1:p.Asn253His
NM_001311196.2:c.1036A>C	NP_001298125.1:p.Asn346His
NM_001256657.2:c.1294A>C	NP_001243586.1:p.Asn432His