Canonical Allele Identifier: CA10660558

Gene: PRDM2

Linked Data

• dbSNP Id: rs2697962
• gnomAD v2: 1-14150992-T-C
• gnomAD v3: 1-13824497-T-C
• gnomAD v4: 1-13824497-T-C
• MyVariant Identifiers: chr1:g.14150992T>C (hg19) ; chr1:g.13824497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.13824497T>C , CM000663.2:g.13824497T>C	GRCh38
NC_000001.10:g.14150992T>C , CM000663.1:g.14150992T>C	GRCh37
NC_000001.9:g.14023579T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000311066.10:c.*1362T>C MANE Select	ENSP00000312352.6:n.*1362T>C
ENST00000235372.11:c.*1362T>C	ENSP00000235372.6:n.*1362T>C
ENST00000376048.9:c.*1313T>C	ENSP00000365216.5:n.*1313T>C
NM_001135610.1:c.*1313T>C	NP_001129082.1:n.*1313T>C
NM_012231.4:c.*1362T>C	NP_036363.2:n.*1362T>C
XM_011542092.1:c.*1313T>C	XP_011540394.1:n.*1313T>C
XM_011542093.1:c.*1313T>C	XP_011540395.1:n.*1313T>C
XM_017002255.1:c.*1362T>C	XP_016857744.1:n.*1362T>C
XM_017002256.1:c.*1362T>C	XP_016857745.1:n.*1362T>C
XM_017002259.2:c.*1362T>C	XP_016857748.1:n.*1362T>C
XM_017002260.2:c.*1362T>C	XP_016857749.1:n.*1362T>C
XM_017002261.2:c.*1362T>C	XP_016857750.1:n.*1362T>C
XM_017002263.2:c.*1362T>C	XP_016857752.1:n.*1362T>C
XM_017002264.2:c.*1313T>C	XP_016857753.1:n.*1313T>C
XR_002957562.1:n.6349T>C
NM_001135610.2:c.*1313T>C	NP_001129082.1:n.*1313T>C
NM_001393986.1:c.*1362T>C MANE Select	NP_001380915.1:n.*1362T>C
NM_001393987.1:c.*1362T>C	NP_001380916.1:n.*1362T>C
NM_012231.5:c.*1362T>C	NP_036363.2:n.*1362T>C