Canonical Allele Identifier: CA998196714
Gene: HES2 HGNC NCBI

Linked Data

dbSNP Id: rs11364
gnomAD v3: 1-6415626-C-G
gnomAD v4: 1-6415626-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6415626C>G , CM000663.2:g.6415626C>G GRCh38
NC_000001.10:g.6475686C>G , CM000663.1:g.6475686C>G GRCh37
NC_000001.9:g.6398273C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000377834.8:c.*3247G>C MANE Select ENSP00000367065.4:n.*3247G>C
ENST00000377836.8:c.142-2344G>C ENSP00000367067.4:n.142-2344G>C
ENST00000377837.5:c.142-2344G>C ENSP00000367068.1:n.142-2344G>C
ENST00000471190.1:n.116+890G>C
NM_019089.4:c.*3247G>C NP_061962.2:n.*3247G>C
XM_011541612.1:c.*3247G>C XP_011539914.1:n.*3247G>C
XM_011541613.1:c.*3247G>C XP_011539915.1:n.*3247G>C
NM_019089.5:c.*3247G>C MANE Select NP_061962.2:n.*3247G>C
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