Canonical Allele Identifier: CA531714045

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1430981444
• gnomAD v2: 2-31763540-GCCT-G
• gnomAD v3: 2-31538470-GCCT-G
• gnomAD v4: 2-31538470-GCCT-G
• MyVariant Identifiers: chr2:g.31763541_31763543del (hg19) ; chr2:g.31538471_31538473del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31538475_31538477del , CM000664.2:g.31538475_31538477del	GRCh38
NC_000002.11:g.31763545_31763547del , CM000664.1:g.31763545_31763547del	GRCh37
NC_000002.10:g.31617049_31617051del	NCBI36
NG_008365.1:g.47499_47501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.282-4707_282-4705del MANE Select	ENSP00000477587.1:n.282-4707_282-4705del
ENST00000622030.1:c.282-4707_282-4705del	ENSP00000477587.1:n.282-4707_282-4705del
NM_000348.3:c.282-4707_282-4705del	NP_000339.2:n.282-4707_282-4705del
XM_011533068.1:c.282-4707_282-4705del	XP_011531370.1:n.282-4707_282-4705del
XM_011533069.1:c.60-4707_60-4705del	XP_011531371.1:n.60-4707_60-4705del
XM_011533070.1:c.27-4707_27-4705del	XP_011531372.1:n.27-4707_27-4705del
XM_011533071.1:c.27-4707_27-4705del	XP_011531373.1:n.27-4707_27-4705del
XM_011533072.1:c.27-4707_27-4705del	XP_011531374.1:n.27-4707_27-4705del
XM_011533069.2:c.60-4707_60-4705del	XP_011531371.1:n.60-4707_60-4705del
XM_011533072.2:c.27-4707_27-4705del	XP_011531374.1:n.27-4707_27-4705del
NM_000348.4:c.282-4707_282-4705del MANE Select	NP_000339.2:n.282-4707_282-4705del