Canonical Allele Identifier: CA381531200
Community Standard Title: NM_001619.5(GRK2):c.469C>T (p.Leu157Phe)
Gene: GRK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67279866C>T , CM000673.2:g.67279866C>T GRCh38
NC_000011.9:g.67047337C>T , CM000673.1:g.67047337C>T GRCh37
NC_000011.8:g.66803913C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001619.5:c.469C>T MANE Select NP_001610.2:p.Leu157Phe
ENST00000308595.10:c.469C>T MANE Select ENSP00000312262.5:p.Leu157Phe
NM_001619.3:c.469C>T NP_001610.2:p.Leu157Phe
NM_001619.4:c.469C>T NP_001610.2:p.Leu157Phe
ENST00000308595.9:c.469C>T ENSP00000312262.5:p.Leu157Phe
ENST00000416281.6:n.1091C>T
ENST00000526285.1:c.469C>T ENSP00000434126.1:p.Leu157Phe
ENST00000529738.1:n.149C>T
XM_011544773.1:c.379C>T XP_011543075.1:p.Leu127Phe
XM_024448376.1:c.394C>T XP_024304144.1:p.Leu132Phe
XR_001747779.1:n.749C>T
XR_949796.1:n.769C>T