Canonical Allele Identifier: CA349399444

Gene: PRKRA CHROMR

Linked Data

• dbSNP Id: rs150679361
• gnomAD v3: 2-178432244-G-C
• gnomAD v4: 2-178432244-G-C
• MyVariant Identifiers: chr2:g.179296971G>C (hg19) ; chr2:g.178432244G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178432244G>C , CM000664.2:g.178432244G>C	GRCh38
NC_000002.11:g.179296971G>C , CM000664.1:g.179296971G>C	GRCh37
NC_000002.10:g.179005217G>C	NCBI36
NG_009053.1:g.23988C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325748.9:c.795C>G (PRKRA) MANE Select	ENSP00000318176.4:p.Ser265Arg
ENST00000448279.2:c.*523C>G (PRKRA)	ENSP00000388455.1:n.*523C>G
ENST00000457633.2:c.*299C>G (PRKRA)	ENSP00000408668.2:n.*299C>G
ENST00000474793.6:n.936C>G (PRKRA)
ENST00000676505.1:c.*555C>G (PRKRA)	ENSP00000504163.1:n.*555C>G
ENST00000676586.1:n.2932C>G (PRKRA)
ENST00000676752.1:n.2694C>G (PRKRA)
ENST00000676832.1:c.*616C>G (PRKRA)	ENSP00000503231.1:n.*616C>G
ENST00000676922.1:c.*523C>G (PRKRA)	ENSP00000503369.1:n.*523C>G
ENST00000677136.1:n.2787C>G (PRKRA)
ENST00000677206.1:c.*587C>G (PRKRA)	ENSP00000503034.1:n.*587C>G
ENST00000677253.1:c.*492C>G (PRKRA)	ENSP00000503466.1:n.*492C>G
ENST00000677386.1:c.*238C>G (PRKRA)	ENSP00000503003.1:n.*238C>G
ENST00000677460.1:c.*124C>G (PRKRA)	ENSP00000504507.1:n.*124C>G
ENST00000677584.1:c.*633C>G (PRKRA)	ENSP00000504411.1:n.*633C>G
ENST00000677689.1:c.540C>G (PRKRA)	ENSP00000502919.1:p.Ser180Arg
ENST00000677859.1:c.648C>G (PRKRA)
ENST00000677981.1:c.543C>G (PRKRA)	ENSP00000503536.1:p.Ser181Arg
ENST00000678053.1:c.*555C>G (PRKRA)	ENSP00000504330.1:n.*555C>G
ENST00000678058.1:c.539C>G (PRKRA)	ENSP00000503203.1:n.539C>G
ENST00000678167.1:c.*349C>G (PRKRA)	ENSP00000504479.1:n.*349C>G
ENST00000678775.1:c.456C>G (PRKRA)	ENSP00000504030.1:p.Ser152Arg
ENST00000678845.1:c.456C>G (PRKRA)	ENSP00000503011.1:p.Ser152Arg
ENST00000679037.1:c.*463C>G (PRKRA)	ENSP00000504421.1:n.*463C>G
ENST00000679202.1:n.1882C>G (PRKRA)
ENST00000325748.8:c.795C>G (PRKRA)	ENSP00000318176.4:p.Ser265Arg
ENST00000424699.5:c.*587C>G (PRKRA)	ENSP00000408029.1:n.*587C>G
ENST00000432031.6:c.762C>G (PRKRA)	ENSP00000393883.2:p.Ser254Arg
ENST00000487082.5:c.720C>G (PRKRA)	ENSP00000430604.1:p.Ser240Arg
ENST00000490501.5:n.1022C>G (PRKRA)
NM_001139517.1:c.762C>G (PRKRA)	NP_001132989.1:p.Ser254Arg
NM_001139518.1:c.720C>G (PRKRA)	NP_001132990.1:p.Ser240Arg
NM_001316362.1:c.456C>G (PRKRA)	NP_001303291.1:p.Ser152Arg
NM_003690.4:c.795C>G (PRKRA)	NP_003681.1:p.Ser265Arg
NR_110204.1:n.872-1138G>C (CHROMR)
NR_110205.1:n.716-1138G>C (CHROMR)
NR_110206.1:n.651-1138G>C (CHROMR)
XM_005246921.3:c.456C>G (PRKRA)	XP_005246978.1:p.Ser152Arg
XM_011512063.1:c.540C>G (PRKRA)	XP_011510365.1:p.Ser180Arg
XM_011512064.1:c.540C>G (PRKRA)	XP_011510366.1:p.Ser180Arg
XM_011512066.1:c.456C>G (PRKRA)	XP_011510368.1:p.Ser152Arg
XM_011512063.2:c.540C>G (PRKRA)	XP_011510365.1:p.Ser180Arg
XM_011512066.2:c.456C>G (PRKRA)	XP_011510368.1:p.Ser152Arg
XM_017005159.1:c.456C>G (PRKRA)	XP_016860648.1:p.Ser152Arg
XR_001739008.2:n.836C>G (PRKRA)
NM_003690.5:c.795C>G (PRKRA) MANE Select	NP_003681.1:p.Ser265Arg
NM_001316362.2:c.456C>G (PRKRA)	NP_001303291.1:p.Ser152Arg