Canonical Allele Identifier: CA531769396

Gene: SRD5A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526239_31526259dup , CM000664.2:g.31526239_31526259dup	GRCh38
NC_000002.11:g.31751309_31751329dup , CM000664.1:g.31751309_31751329dup	GRCh37
NC_000002.10:g.31604813_31604833dup	NCBI36
NG_008365.1:g.59718_59738dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.707_727dup MANE Select	ENSP00000477587.1:p.Tyr242_Pro243insLeuLysMetPheGluAspTyr
ENST00000622030.1:c.707_727dup	ENSP00000477587.1:p.Tyr242_Pro243insLeuLysMetPheGluAspTyr
NM_000348.3:c.707_727dup	NP_000339.2:p.Tyr242_Pro243insLeuLysMetPheGluAspTyr
XM_011533069.1:c.485_505dup	XP_011531371.1:p.Tyr168_Pro169insLeuLysMetPheGluAspTyr
XM_011533070.1:c.452_472dup	XP_011531372.1:p.Tyr157_Pro158insLeuLysMetPheGluAspTyr
XM_011533071.1:c.452_472dup	XP_011531373.1:p.Tyr157_Pro158insLeuLysMetPheGluAspTyr
XM_011533072.1:c.452_472dup	XP_011531374.1:p.Tyr157_Pro158insLeuLysMetPheGluAspTyr
XM_011533069.2:c.485_505dup	XP_011531371.1:p.Tyr168_Pro169insLeuLysMetPheGluAspTyr
XM_011533072.2:c.452_472dup	XP_011531374.1:p.Tyr157_Pro158insLeuLysMetPheGluAspTyr
NM_000348.4:c.707_727dup MANE Select	NP_000339.2:p.Tyr242_Pro243insLeuLysMetPheGluAspTyr