Canonical Allele Identifier: CA15173319
Gene: ASTL HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.96130205A>G
GRCh37 chr2:g.96795944A>G
gnomAD v2:
2:96795944 A / G
gnomAD v3:
2:96130205 A / G
gnomAD v4:
chr2-96130205-A-G
Joint Max Group AF 0.59621956 (EAS)
Genomes Max Group AF 0.61708302 (EAS)
Exomes Max Group AF 0.59143005 (EAS)
dbSNP:
749457
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96130205A>G , CM000664.2:g.96130205A>G GRCh38
NC_000002.11:g.96795944A>G , CM000664.1:g.96795944A>G GRCh37
NC_000002.10:g.96159671A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342380.3:c.638-60T>C MANE Select ENSP00000343674.2:n.638-60T>C
ENST00000342380.2:c.638-60T>C ENSP00000343674.2:n.638-60T>C
NM_001002036.3:c.638-60T>C NP_001002036.3:n.638-60T>C
XM_011511205.1:c.653-60T>C XP_011509507.1:n.653-60T>C
XM_011511206.1:c.641-60T>C XP_011509508.1:n.641-60T>C
XM_011511207.1:c.653-60T>C XP_011509509.1:n.653-60T>C
XM_011511208.1:c.653-60T>C XP_011509510.1:n.653-60T>C
XM_011511205.2:c.653-60T>C XP_011509507.1:n.653-60T>C
XM_011511206.2:c.641-60T>C XP_011509508.1:n.641-60T>C
XM_011511207.2:c.653-60T>C XP_011509509.1:n.653-60T>C
XM_011511208.2:c.653-60T>C XP_011509510.1:n.653-60T>C
NM_001002036.4:c.638-60T>C MANE Select NP_001002036.3:n.638-60T>C
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