Canonical Allele Identifier: CA383599314
Gene: NCAPD2 HGNC NCBI
GAPDH-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 524202
ClinVar RCV Id: RCV000627677
dbSNP Id: rs1555141158
MyVariant Identifiers: chr12:g.6640244T>C (hg19) chr12:g.6531078T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6531078T>C , CM000674.2:g.6531078T>C GRCh38
NC_000012.11:g.6640244T>C , CM000674.1:g.6640244T>C GRCh37
NC_000012.10:g.6510505T>C NCBI36
NG_007073.2:g.1588T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000315579.10:c.4120+2T>C (NCAPD2) MANE Select ENSP00000325017.5:n.4120+2T>C
ENST00000315579.9:c.4120+2T>C (NCAPD2) ENSP00000325017.5:n.4120+2T>C
ENST00000539084.5:c.*3815+2T>C (NCAPD2) ENSP00000438495.1:n.*3815+2T>C
NM_014865.3:c.4120+2T>C (NCAPD2) NP_055680.3:n.4120+2T>C
XR_002957397.1:n.3021A>G (GAPDH-DT)
NM_014865.4:c.4120+2T>C (NCAPD2) MANE Select NP_055680.3:n.4120+2T>C
Search 100 bp 5'
Search 100 bp 3'