Canonical Allele Identifier: CA837506652

Gene: CRHR2

Linked Data

• dbSNP Id: rs1219790166
• gnomAD v3: 7-30678530-ACT-A
• gnomAD v4: 7-30678530-ACT-A
• MyVariant Identifiers: chr7:g.30718147_30718148del (hg19) ; chr7:g.30678531_30678532del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30678533_30678534del , CM000669.2:g.30678533_30678534del	GRCh38
NC_000007.13:g.30718149_30718150del , CM000669.1:g.30718149_30718150del	GRCh37
NC_000007.12:g.30684674_30684675del	NCBI36
NG_029169.1:g.26572_26573del

Transcript Alleles

HGVS	Amino-acid change
ENST00000471646.6:c.229+3383_229+3384del MANE Select	ENSP00000418722.1:n.229+3383_229+3384del
ENST00000341843.8:c.187+3383_187+3384del	ENSP00000344304.4:n.187+3383_187+3384del
ENST00000348438.8:c.310+3383_310+3384del	ENSP00000340943.4:n.310+3383_310+3384del
ENST00000452278.5:c.*342+3383_*342+3384del	ENSP00000401930.1:n.*342+3383_*342+3384de...
ENST00000471646.5:c.229+3383_229+3384del	ENSP00000418722.1:n.229+3383_229+3384del
ENST00000506074.6:c.229+3383_229+3384del	ENSP00000426498.3:n.229+3383_229+3384del
NM_001202475.1:c.310+3383_310+3384del	NP_001189404.1:n.310+3383_310+3384del
NM_001202481.1:c.187+3383_187+3384del	NP_001189410.1:n.187+3383_187+3384del
NM_001202482.1:c.229+3383_229+3384del	NP_001189411.1:n.229+3383_229+3384del
NM_001202483.1:c.229+3383_229+3384del	NP_001189412.1:n.229+3383_229+3384del
NM_001883.4:c.229+3383_229+3384del	NP_001874.2:n.229+3383_229+3384del
XM_011515127.1:c.229+3383_229+3384del	XP_011513429.1:n.229+3383_229+3384del
XM_011515128.1:c.229+3383_229+3384del	XP_011513430.1:n.229+3383_229+3384del
XM_011515129.1:c.229+3383_229+3384del	XP_011513431.1:n.229+3383_229+3384del
XM_017011752.2:c.187+3383_187+3384del	XP_016867241.1:n.187+3383_187+3384del
XM_024446665.1:c.229+3383_229+3384del	XP_024302433.1:n.229+3383_229+3384del
NM_001883.5:c.229+3383_229+3384del MANE Select	NP_001874.2:n.229+3383_229+3384del
NM_001202482.2:c.229+3383_229+3384del	NP_001189411.1:n.229+3383_229+3384del
NM_001202483.2:c.229+3383_229+3384del	NP_001189412.1:n.229+3383_229+3384del