Canonical Allele Identifier: CA135234912

Gene: JARID2

Linked Data

• dbSNP Id: rs984263811
• gnomAD v2: 6-15268075-T-C
• gnomAD v3: 6-15267844-T-C
• gnomAD v4: 6-15267844-T-C
• MyVariant Identifiers: chr6:g.15268075T>C (hg19) ; chr6:g.15267844T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15267844T>C , CM000668.2:g.15267844T>C	GRCh38
NC_000006.11:g.15268075T>C , CM000668.1:g.15268075T>C	GRCh37
NC_000006.10:g.15376054T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341776.7:c.45+21260T>C MANE Select	ENSP00000341280.2:n.45+21260T>C
ENST00000341776.6:c.45+21260T>C	ENSP00000341280.2:n.45+21260T>C
ENST00000397311.4:c.-472+18880T>C	ENSP00000380478.3:n.-472+18880T>C
NM_001267040.1:c.-472+18880T>C	NP_001253969.1:n.-472+18880T>C
NM_004973.3:c.45+21260T>C	NP_004964.2:n.45+21260T>C
XM_005249089.2:c.-330+18880T>C	XP_005249146.1:n.-330+18880T>C
XM_011514578.1:c.-517+18880T>C	XP_011512880.1:n.-517+18880T>C
XM_011514579.1:c.45+21260T>C	XP_011512881.1:n.45+21260T>C
XM_011514580.1:c.45+21260T>C	XP_011512882.1:n.45+21260T>C
XM_011514582.1:c.-194+21260T>C	XP_011512884.1:n.-194+21260T>C
XM_011514579.3:c.45+21260T>C	XP_011512881.1:n.45+21260T>C
XM_017010833.2:c.45+21260T>C	XP_016866322.1:n.45+21260T>C
XM_017010834.2:c.-330+21260T>C	XP_016866323.1:n.-330+21260T>C
NM_004973.4:c.45+21260T>C MANE Select	NP_004964.2:n.45+21260T>C