Canonical Allele Identifier: CA915446457
Gene: CRHR2 HGNC NCBI

Linked Data

dbSNP Id: rs1562804751
gnomAD v2: 7-30717927-T-C
gnomAD v3: 7-30678311-T-C
gnomAD v4: 7-30678311-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30678311T>C , CM000669.2:g.30678311T>C GRCh38
NC_000007.13:g.30717927T>C , CM000669.1:g.30717927T>C GRCh37
NC_000007.12:g.30684452T>C NCBI36
NG_029169.1:g.26793A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000471646.6:c.229+3604A>G MANE Select ENSP00000418722.1:n.229+3604A>G
ENST00000341843.8:c.187+3604A>G ENSP00000344304.4:n.187+3604A>G
ENST00000348438.8:c.310+3604A>G ENSP00000340943.4:n.310+3604A>G
ENST00000452278.5:c.*342+3604A>G ENSP00000401930.1:n.*342+3604A>G
ENST00000471646.5:c.229+3604A>G ENSP00000418722.1:n.229+3604A>G
ENST00000506074.6:c.229+3604A>G ENSP00000426498.3:n.229+3604A>G
NM_001202475.1:c.310+3604A>G NP_001189404.1:n.310+3604A>G
NM_001202481.1:c.187+3604A>G NP_001189410.1:n.187+3604A>G
NM_001202482.1:c.229+3604A>G NP_001189411.1:n.229+3604A>G
NM_001202483.1:c.229+3604A>G NP_001189412.1:n.229+3604A>G
NM_001883.4:c.229+3604A>G NP_001874.2:n.229+3604A>G
XM_011515127.1:c.229+3604A>G XP_011513429.1:n.229+3604A>G
XM_011515128.1:c.229+3604A>G XP_011513430.1:n.229+3604A>G
XM_011515129.1:c.229+3604A>G XP_011513431.1:n.229+3604A>G
XM_017011752.2:c.187+3604A>G XP_016867241.1:n.187+3604A>G
XM_024446665.1:c.229+3604A>G XP_024302433.1:n.229+3604A>G
NM_001883.5:c.229+3604A>G MANE Select NP_001874.2:n.229+3604A>G
NM_001202482.2:c.229+3604A>G NP_001189411.1:n.229+3604A>G
NM_001202483.2:c.229+3604A>G NP_001189412.1:n.229+3604A>G