Canonical Allele Identifier: CA531712297
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1311923499
gnomAD v2: 2-31756374-ACCATAGCATCAT-A
gnomAD v3: 2-31531304-ACCATAGCATCAT-A
gnomAD v4: 2-31531304-ACCATAGCATCAT-A
MyVariant Identifiers: chr2:g.31756375_31756386del (hg19) chr2:g.31531305_31531316del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531307_31531318del , CM000664.2:g.31531307_31531318del GRCh38
NC_000002.11:g.31756377_31756388del , CM000664.1:g.31756377_31756388del GRCh37
NC_000002.10:g.31609881_31609892del NCBI36
NG_008365.1:g.54656_54667del

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.547+55_547+66del MANE Select ENSP00000477587.1:n.547+55_547+66del
ENST00000622030.1:c.547+55_547+66del ENSP00000477587.1:n.547+55_547+66del
NM_000348.3:c.547+55_547+66del NP_000339.2:n.547+55_547+66del
XM_011533069.1:c.325+55_325+66del XP_011531371.1:n.325+55_325+66del
XM_011533070.1:c.292+55_292+66del XP_011531372.1:n.292+55_292+66del
XM_011533071.1:c.292+55_292+66del XP_011531373.1:n.292+55_292+66del
XM_011533072.1:c.292+55_292+66del XP_011531374.1:n.292+55_292+66del
XM_011533069.2:c.325+55_325+66del XP_011531371.1:n.325+55_325+66del
XM_011533072.2:c.292+55_292+66del XP_011531374.1:n.292+55_292+66del
NM_000348.4:c.547+55_547+66del MANE Select NP_000339.2:n.547+55_547+66del
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