Canonical Allele Identifier: CA2167969

Gene: CHRND

Linked Data

• dbSNP Id: rs536718768
• ExAC: 2:233392942 T / C
• gnomAD v2: 2-233392942-T-C
• gnomAD v3: 2-232528232-T-C
• gnomAD v4: 2-232528232-T-C
• MyVariant Identifiers: chr2:g.233392942T>C (hg19) ; chr2:g.232528232T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528232T>C , CM000664.2:g.232528232T>C	GRCh38
NC_000002.11:g.233392942T>C , CM000664.1:g.233392942T>C	GRCh37
NC_000002.10:g.233101186T>C	NCBI36
NG_008028.1:g.7021T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.244-30T>C MANE Select	ENSP00000258385.3:n.244-30T>C
ENST00000258385.7:c.244-30T>C	ENSP00000258385.3:n.244-30T>C
ENST00000412233.5:c.244-30T>C	ENSP00000398143.1:n.244-30T>C
ENST00000441621.6:c.244-30T>C	ENSP00000408819.2:n.244-30T>C
ENST00000446616.1:c.244-30T>C	ENSP00000410801.1:n.244-30T>C
ENST00000449596.5:c.199-30T>C	ENSP00000404950.1:n.199-30T>C
ENST00000543200.5:c.199-30T>C	ENSP00000438380.1:n.199-30T>C
NM_000751.2:c.244-30T>C	NP_000742.1:n.244-30T>C
NM_001256657.1:c.199-30T>C	NP_001243586.1:n.199-30T>C
NM_001311195.1:c.-28-30T>C	NP_001298124.1:n.-28-30T>C
NM_001311196.1:c.-28-30T>C	NP_001298125.1:n.-28-30T>C
NR_046333.1:c.-4294966996-30T>C
NR_046334.1:c.-4294966996-30T>C
XM_011510524.1:c.-28-30T>C	XP_011508826.1:n.-28-30T>C
XM_011510524.2:c.-28-30T>C	XP_011508826.1:n.-28-30T>C
NM_000751.3:c.244-30T>C MANE Select	NP_000742.1:n.244-30T>C
NM_001311195.2:c.-28-30T>C	NP_001298124.1:n.-28-30T>C
NM_001311196.2:c.-28-30T>C	NP_001298125.1:n.-28-30T>C
NM_001256657.2:c.199-30T>C	NP_001243586.1:n.199-30T>C