Canonical Allele Identifier: CA66957587

Gene: CHRND

Linked Data

• dbSNP Id: rs202214413
• gnomAD v3: 2-232534171-G-C
• gnomAD v4: 2-232534171-G-C
• MyVariant Identifiers: chr2:g.233398881G>C (hg19) ; chr2:g.232534171G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534171G>C , CM000664.2:g.232534171G>C	GRCh38
NC_000002.11:g.233398881G>C , CM000664.1:g.233398881G>C	GRCh37
NC_000002.10:g.233107125G>C	NCBI36
NG_008028.1:g.12960G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1252+36G>C MANE Select	ENSP00000258385.3:n.1252+36G>C
ENST00000258385.7:c.1252+36G>C	ENSP00000258385.3:n.1252+36G>C
ENST00000441621.6:c.*434+36G>C	ENSP00000408819.2:n.*434+36G>C
ENST00000446616.1:c.*893+36G>C	ENSP00000410801.1:n.*893+36G>C
ENST00000543200.5:c.1207+36G>C	ENSP00000438380.1:n.1207+36G>C
NM_000751.2:c.1252+36G>C	NP_000742.1:n.1252+36G>C
NM_001256657.1:c.1207+36G>C	NP_001243586.1:n.1207+36G>C
NM_001311195.1:c.670+36G>C	NP_001298124.1:n.670+36G>C
NM_001311196.1:c.949+36G>C	NP_001298125.1:n.949+36G>C
NR_046333.1:c.-4294966299+36G>C
NR_046334.1:c.-4294966020+36G>C
XM_011510524.1:c.871+36G>C	XP_011508826.1:n.871+36G>C
XM_011510524.2:c.871+36G>C	XP_011508826.1:n.871+36G>C
NM_000751.3:c.1252+36G>C MANE Select	NP_000742.1:n.1252+36G>C
NM_001311195.2:c.670+36G>C	NP_001298124.1:n.670+36G>C
NM_001311196.2:c.949+36G>C	NP_001298125.1:n.949+36G>C
NM_001256657.2:c.1207+36G>C	NP_001243586.1:n.1207+36G>C