Canonical Allele Identifier: CA623328226
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1398853425
gnomAD v2: 16-74747229-A-AAGGGGCAGGAACCTCATCTGCGGAGGCTGGGAGGC
gnomAD v3: 16-74713331-A-AAGGGGCAGGAACCTCATCTGCGGAGGCTGGGAGGC
gnomAD v4: 16-74713331-A-AAGGGGCAGGAACCTCATCTGCGGAGGCTGGGAGGC
MyVariant Identifiers: chr16:g.74747229_74747230insAGGGGCAGGAACCTCATCTGCGGAGGCTGGGAGGC (hg19) chr16:g.74713331_74713332insAGGGGCAGGAACCTCATCTGCGGAGGCTGGGAGGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713337_74713371dup , CM000678.2:g.74713337_74713371dup GRCh38
NC_000016.9:g.74747235_74747269dup , CM000678.1:g.74747235_74747269dup GRCh37
NC_000016.8:g.73304736_73304770dup NCBI36
NG_017070.1:g.66466_66500dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*824_*858dup MANE Select ENSP00000219368.3:n.*824_*858dup
ENST00000219368.7:c.*824_*858dup ENSP00000219368.3:n.*824_*858dup
ENST00000562145.1:n.1664_1698dup
NM_024306.4:c.*824_*858dup NP_077282.3:n.*824_*858dup
XM_011523319.1:c.*824_*858dup XP_011521621.1:n.*824_*858dup
XM_011523319.2:c.*824_*858dup XP_011521621.1:n.*824_*858dup
NM_024306.5:c.*824_*858dup MANE Select NP_077282.3:n.*824_*858dup
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