Canonical Allele Identifier: CA540309838

Gene: CHRND

Linked Data

• dbSNP Id: rs1167848284
• gnomAD v2: 2-233399064-C-T
• gnomAD v4: 2-232534354-C-T
• MyVariant Identifiers: chr2:g.233399064C>T (hg19) ; chr2:g.232534354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534354C>T , CM000664.2:g.232534354C>T	GRCh38
NC_000002.11:g.233399064C>T , CM000664.1:g.233399064C>T	GRCh37
NC_000002.10:g.233107308C>T	NCBI36
NG_008028.1:g.13143C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1371+12C>T MANE Select	ENSP00000258385.3:n.1371+12C>T
ENST00000258385.7:c.1371+12C>T	ENSP00000258385.3:n.1371+12C>T
ENST00000441621.6:c.*553+12C>T	ENSP00000408819.2:n.*553+12C>T
ENST00000446616.1:c.*1012+12C>T	ENSP00000410801.1:n.*1012+12C>T
ENST00000543200.5:c.1326+12C>T	ENSP00000438380.1:n.1326+12C>T
NM_000751.2:c.1371+12C>T	NP_000742.1:n.1371+12C>T
NM_001256657.1:c.1326+12C>T	NP_001243586.1:n.1326+12C>T
NM_001311195.1:c.789+12C>T	NP_001298124.1:n.789+12C>T
NM_001311196.1:c.1068+12C>T	NP_001298125.1:n.1068+12C>T
NR_046333.1:c.-4294966180+12C>T
NR_046334.1:c.-4294965901+12C>T
XM_011510524.1:c.990+12C>T	XP_011508826.1:n.990+12C>T
XM_011510524.2:c.990+12C>T	XP_011508826.1:n.990+12C>T
NM_000751.3:c.1371+12C>T MANE Select	NP_000742.1:n.1371+12C>T
NM_001311195.2:c.789+12C>T	NP_001298124.1:n.789+12C>T
NM_001311196.2:c.1068+12C>T	NP_001298125.1:n.1068+12C>T
NM_001256657.2:c.1326+12C>T	NP_001243586.1:n.1326+12C>T