Canonical Allele Identifier: CA5643993
Gene: ABCC2 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.99844450C>G
GRCh37 chr10:g.101604207C>G
Revel Score:
ENST00000370449 0.739
gnomAD v2:
10:101604207 C / G
gnomAD v3:
10:99844450 C / G
gnomAD v4:
chr10-99844450-C-G
Joint Max Group AF 0.00000688 (NFE)
Genomes Max Group AF 0.00001973 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
dbSNP:
3740066
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99844450C>G , CM000672.2:g.99844450C>G GRCh38
NC_000010.10:g.101604207C>G , CM000672.1:g.101604207C>G GRCh37
NC_000010.9:g.101594197C>G NCBI36
NG_011798.1:g.66745C>G
NG_011798.2:g.66853C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3972C>G MANE Select ENSP00000497274.1:p.Ile1324Met
ENST00000649459.1:n.320C>G
ENST00000370449.8:c.3972C>G ENSP00000359478.4:p.Ile1324Met
NM_000392.4:c.3972C>G NP_000383.1:p.Ile1324Met
XM_006717630.2:c.3276C>G XP_006717693.1:p.Ile1092Met
XR_945604.1:n.4161C>G
XR_945605.1:n.4036C>G
NM_000392.5:c.3972C>G MANE Select NP_000383.2:p.Ile1324Met
XM_006717630.3:c.3276C>G XP_006717693.1:p.Ile1092Met
XR_945604.3:n.4215C>G
XR_945605.3:n.4088C>G
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