Canonical Allele Identifier: CA414147056
Community Standard Title: NM_020871.4(LRCH2):c.772A>G (p.Lys258Glu)
Gene: LRCH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.115179519T>C , CM000685.2:g.115179519T>C GRCh38
NC_000023.10:g.114414082T>C , CM000685.1:g.114414082T>C GRCh37
NC_000023.9:g.114320338T>C NCBI36
NG_021299.1:g.59554A>G
NG_021299.2:g.59554A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020871.4:c.772A>G MANE Select NP_065922.3:p.Lys258Glu
ENST00000317135.13:c.772A>G MANE Select ENSP00000325091.8:p.Lys258Glu
NM_001243963.1:c.772A>G NP_001230892.1:p.Lys258Glu
NM_001243963.2:c.772A>G NP_001230892.1:p.Lys258Glu
NM_020871.3:c.772A>G NP_065922.3:p.Lys258Glu
ENST00000317135.12:c.772A>G ENSP00000325091.8:p.Lys258Glu
ENST00000538422.2:c.772A>G ENSP00000439366.1:p.Lys258Glu
XM_006724724.2:c.772A>G XP_006724787.2:p.Lys258Glu
XM_006724724.3:c.772A>G XP_006724787.2:p.Lys258Glu
XM_011537535.1:c.301A>G XP_011535837.1:p.Lys101Glu
XM_017029696.2:c.772A>G XP_016885185.1:p.Lys258Glu