Canonical Allele Identifier: CA2606787434

Gene: NR5A2

Linked Data

• dbSNP Id: rs2102142236
• gnomAD v3: 1-200038343-G-C
• gnomAD v4: 1-200038343-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038343G>C , CM000663.2:g.200038343G>C	GRCh38
NC_000001.10:g.200007471G>C , CM000663.1:g.200007471G>C	GRCh37
NC_000001.9:g.198274094G>C	NCBI36
NG_050913.1:g.15742G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-1315G>C MANE Select	ENSP00000356331.3:n.65-1315G>C
ENST00000236914.7:c.65-5431G>C	ENSP00000236914.3:n.65-5431G>C
ENST00000367362.7:c.65-1315G>C	ENSP00000356331.3:n.65-1315G>C
ENST00000447034.1:c.30-358G>C
ENST00000474307.1:c.*419-5431G>C	ENSP00000436776.1:n.*419-5431G>C
NM_003822.4:c.65-5431G>C	NP_003813.1:n.65-5431G>C
NM_205860.2:c.65-1315G>C	NP_995582.1:n.65-1315G>C
XM_011509380.1:c.-56-1315G>C	XP_011507682.1:n.-56-1315G>C
XM_011509382.1:c.-14-5431G>C	XP_011507684.1:n.-14-5431G>C
XM_011509381.3:c.-486G>C	XP_011507683.1:n.-486G>C
NM_205860.3:c.65-1315G>C MANE Select	NP_995582.1:n.65-1315G>C
NM_003822.5:c.65-5431G>C	NP_003813.1:n.65-5431G>C