Canonical Allele Identifier: CA351005230

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534079-T-C
• MyVariant Identifiers: chr2:g.233398789T>C (hg19) ; chr2:g.232534079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534079T>C , CM000664.2:g.232534079T>C	GRCh38
NC_000002.11:g.233398789T>C , CM000664.1:g.233398789T>C	GRCh37
NC_000002.10:g.233107033T>C	NCBI36
NG_008028.1:g.12868T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1196T>C MANE Select	ENSP00000258385.3:p.Leu399Pro
ENST00000258385.7:c.1196T>C	ENSP00000258385.3:p.Leu399Pro
ENST00000441621.6:c.*378T>C	ENSP00000408819.2:n.*378T>C
ENST00000446616.1:c.*837T>C	ENSP00000410801.1:n.*837T>C
ENST00000543200.5:c.1151T>C	ENSP00000438380.1:p.Leu384Pro
NM_000751.2:c.1196T>C	NP_000742.1:p.Leu399Pro
NM_001256657.1:c.1151T>C	NP_001243586.1:p.Leu384Pro
NM_001311195.1:c.614T>C	NP_001298124.1:p.Leu205Pro
NM_001311196.1:c.893T>C	NP_001298125.1:p.Leu298Pro
NR_046333.1:c.-4294966355T>C
NR_046334.1:c.-4294966076T>C
XM_011510524.1:c.815T>C	XP_011508826.1:p.Leu272Pro
XM_011510524.2:c.815T>C	XP_011508826.1:p.Leu272Pro
NM_000751.3:c.1196T>C MANE Select	NP_000742.1:p.Leu399Pro
NM_001311195.2:c.614T>C	NP_001298124.1:p.Leu205Pro
NM_001311196.2:c.893T>C	NP_001298125.1:p.Leu298Pro
NM_001256657.2:c.1151T>C	NP_001243586.1:p.Leu384Pro