Canonical Allele Identifier: CA15944509
Gene: NECTIN2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.44888997C>T
GRCh37 chr19:g.45392254C>T
gnomAD v2:
19:45392254 C / T
gnomAD v3:
19:44888997 C / T
gnomAD v4:
chr19-44888997-C-T
Joint Max Group AF 0.15803436 (NFE)
Genomes Max Group AF 0.1583776 (NFE)
Exomes Max Group AF 0.09586732 (NFE)
dbSNP:
6857
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44888997C>T , CM000681.2:g.44888997C>T GRCh38
NC_000019.9:g.45392254C>T , CM000681.1:g.45392254C>T GRCh37
NC_000019.8:g.50084094C>T NCBI36
NG_029149.1:g.47862C>T
NG_042854.1:g.2778C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252483.10:c.*618C>T MANE Select ENSP00000252483.4:n.*618C>T
ENST00000252483.9:c.2235C>T ENSP00000252483.4:n.2235C>T
NM_001042724.1:c.*618C>T NP_001036189.1:n.*618C>T
NM_001042724.2:c.*618C>T MANE Select NP_001036189.1:n.*618C>T
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