Canonical Allele Identifier: CA2580088508

Gene: PACS2 BRF1

Linked Data

• ClinVar Variation Id: 2130182
• ClinVar RCV Id: RCV003050375
• gnomAD v4: 14-105315044-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105315044G>C , CM000676.2:g.105315044G>C	GRCh38
NC_000014.8:g.105781381G>C , CM000676.1:g.105781381G>C	GRCh37
NC_000014.7:g.104852426G>C	NCBI36
NG_029489.1:g.5534C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685365.1:c.119+7G>C (PACS2)	ENSP00000509432.1:n.119+7G>C
ENST00000686173.1:n.155+7G>C (PACS2)
ENST00000686461.1:c.119+7G>C (PACS2)	ENSP00000510561.1:n.119+7G>C
ENST00000689240.1:n.62+7G>C (PACS2)
ENST00000447393.6:c.119+7G>C (PACS2) MANE Select	ENSP00000393559.2:n.119+7G>C
ENST00000325438.12:c.119+7G>C (PACS2)	ENSP00000321834.8:n.119+7G>C
ENST00000327359.7:c.-162+278C>G (BRF1)	ENSP00000329029.3:n.-162+278C>G
ENST00000430725.6:c.-83+14065G>C (PACS2)	ENSP00000393524.2:n.-83+14065G>C
ENST00000440513.7:c.-162+278C>G (BRF1)	ENSP00000388877.3:n.-162+278C>G
ENST00000447393.5:c.119+7G>C (PACS2)	ENSP00000393559.2:n.119+7G>C
ENST00000547217.5:c.119+7G>C (PACS2)	ENSP00000449525.1:n.119+7G>C
ENST00000548265.1:n.148+7G>C (PACS2)
ENST00000550692.1:c.-162+298C>G (BRF1)	ENSP00000448823.1:n.-162+298C>G
NM_001100913.2:c.119+7G>C (PACS2)	NP_001094383.2:n.119+7G>C
NM_001242786.1:c.-162+278C>G (BRF1)	NP_001229715.1:n.-162+278C>G
NM_001242787.1:c.-162+278C>G (BRF1)	NP_001229716.1:n.-162+278C>G
NM_001243127.2:c.-83+14065G>C (PACS2)	NP_001230056.1:n.-83+14065G>C
NM_015197.3:c.119+7G>C (PACS2)	NP_056012.2:n.119+7G>C
XM_005267462.3:c.119+7G>C (PACS2)	XP_005267519.1:n.119+7G>C
XM_005267463.3:c.119+7G>C (PACS2)	XP_005267520.1:n.119+7G>C
XM_006720085.2:c.119+7G>C (PACS2)	XP_006720148.1:n.119+7G>C
XM_006720086.2:c.119+7G>C (PACS2)	XP_006720149.1:n.119+7G>C
XM_006720087.2:c.119+7G>C (PACS2)	XP_006720150.1:n.119+7G>C
XM_006720088.2:c.119+7G>C (PACS2)	XP_006720151.1:n.119+7G>C
XM_006720089.2:c.119+7G>C (PACS2)	XP_006720152.1:n.119+7G>C
XM_006720090.1:c.119+7G>C (PACS2)	XP_006720153.1:n.119+7G>C
XM_006720091.1:c.119+7G>C (PACS2)	XP_006720154.1:n.119+7G>C
XM_006720092.2:c.119+7G>C (PACS2)	XP_006720155.1:n.119+7G>C
XM_011536585.1:c.-83+14065G>C (PACS2)	XP_011534887.1:n.-83+14065G>C
XM_006720090.2:c.119+7G>C (PACS2)	XP_006720153.1:n.119+7G>C
XM_006720091.2:c.119+7G>C (PACS2)	XP_006720154.1:n.119+7G>C
XM_006720092.3:c.119+7G>C (PACS2)	XP_006720155.1:n.119+7G>C
XM_017021105.2:c.119+7G>C (PACS2)	XP_016876594.1:n.119+7G>C
XM_017021106.2:c.119+7G>C (PACS2)	XP_016876595.1:n.119+7G>C
XM_017021107.2:c.119+7G>C (PACS2)	XP_016876596.1:n.119+7G>C
XM_017021108.2:c.119+7G>C (PACS2)	XP_016876597.1:n.119+7G>C
XM_017021109.2:c.119+7G>C (PACS2)	XP_016876598.1:n.119+7G>C
XM_017021110.2:c.119+7G>C (PACS2)	XP_016876599.1:n.119+7G>C
XM_017021111.2:c.-83+14065G>C (PACS2)	XP_016876600.1:n.-83+14065G>C
XM_017021112.2:c.-83+14065G>C (PACS2)	XP_016876601.1:n.-83+14065G>C
XR_001750200.2:n.178+7G>C (PACS2)
NM_001100913.3:c.119+7G>C (PACS2) MANE Select	NP_001094383.2:n.119+7G>C
NM_001243127.3:c.-83+14065G>C (PACS2)	NP_001230056.1:n.-83+14065G>C
NM_015197.4:c.119+7G>C (PACS2)	NP_056012.2:n.119+7G>C
NM_001242786.2:c.-162+278C>G (BRF1)	NP_001229715.1:n.-162+278C>G
NM_001242787.2:c.-162+278C>G (BRF1)	NP_001229716.1:n.-162+278C>G