Canonical Allele Identifier: CA266519567

Gene: PACS2 BRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105314544T>C , CM000676.2:g.105314544T>C	GRCh38
NC_000014.8:g.105780881T>C , CM000676.1:g.105780881T>C	GRCh37
NC_000014.7:g.104851926T>C	NCBI36
NG_029489.1:g.6034A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325438.12:c.-375T>C (PACS2)	ENSP00000321834.8:n.-375T>C
ENST00000327359.7:c.-162+778A>G (BRF1)	ENSP00000329029.3:n.-162+778A>G
ENST00000430725.6:c.-83+13565T>C (PACS2)	ENSP00000393524.2:n.-83+13565T>C
ENST00000440513.7:c.-162+778A>G (BRF1)	ENSP00000388877.3:n.-162+778A>G
ENST00000550692.1:c.-162+798A>G (BRF1)	ENSP00000448823.1:n.-162+798A>G
NM_001100913.2:c.-375T>C (PACS2)	NP_001094383.2:n.-375T>C
NM_001242786.1:c.-162+778A>G (BRF1)	NP_001229715.1:n.-162+778A>G
NM_001242787.1:c.-162+778A>G (BRF1)	NP_001229716.1:n.-162+778A>G
NM_001243127.2:c.-83+13565T>C (PACS2)	NP_001230056.1:n.-83+13565T>C
NM_015197.3:c.-375T>C (PACS2)	NP_056012.2:n.-375T>C
XM_011536585.1:c.-83+13565T>C (PACS2)	XP_011534887.1:n.-83+13565T>C
XM_017021111.2:c.-83+13565T>C (PACS2)	XP_016876600.1:n.-83+13565T>C
XM_017021112.2:c.-83+13565T>C (PACS2)	XP_016876601.1:n.-83+13565T>C
NM_001243127.3:c.-83+13565T>C (PACS2)	NP_001230056.1:n.-83+13565T>C
NM_001242786.2:c.-162+778A>G (BRF1)	NP_001229715.1:n.-162+778A>G
NM_001242787.2:c.-162+778A>G (BRF1)	NP_001229716.1:n.-162+778A>G