Canonical Allele Identifier: CA540309833

Gene: CHRND

Linked Data

• dbSNP Id: rs1315488600
• gnomAD v2: 2-233398908-C-T
• gnomAD v4: 2-232534198-C-T
• MyVariant Identifiers: chr2:g.233398908C>T (hg19) ; chr2:g.232534198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534198C>T , CM000664.2:g.232534198C>T	GRCh38
NC_000002.11:g.233398908C>T , CM000664.1:g.233398908C>T	GRCh37
NC_000002.10:g.233107152C>T	NCBI36
NG_008028.1:g.12987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1253-26C>T MANE Select	ENSP00000258385.3:n.1253-26C>T
ENST00000258385.7:c.1253-26C>T	ENSP00000258385.3:n.1253-26C>T
ENST00000441621.6:c.*435-26C>T	ENSP00000408819.2:n.*435-26C>T
ENST00000446616.1:c.*894-26C>T	ENSP00000410801.1:n.*894-26C>T
ENST00000543200.5:c.1208-26C>T	ENSP00000438380.1:n.1208-26C>T
NM_000751.2:c.1253-26C>T	NP_000742.1:n.1253-26C>T
NM_001256657.1:c.1208-26C>T	NP_001243586.1:n.1208-26C>T
NM_001311195.1:c.671-26C>T	NP_001298124.1:n.671-26C>T
NM_001311196.1:c.950-26C>T	NP_001298125.1:n.950-26C>T
NR_046333.1:c.-4294966298-26C>T
NR_046334.1:c.-4294966019-26C>T
XM_011510524.1:c.872-26C>T	XP_011508826.1:n.872-26C>T
XM_011510524.2:c.872-26C>T	XP_011508826.1:n.872-26C>T
NM_000751.3:c.1253-26C>T MANE Select	NP_000742.1:n.1253-26C>T
NM_001311195.2:c.671-26C>T	NP_001298124.1:n.671-26C>T
NM_001311196.2:c.950-26C>T	NP_001298125.1:n.950-26C>T
NM_001256657.2:c.1208-26C>T	NP_001243586.1:n.1208-26C>T