Canonical Allele Identifier: CA47074569
Gene: SRBD1 HGNC NCBI
COSMIC:
COSN19749741 (not active)
MyVariant.info:
GRCh38 chr2:g.45419685A>G
GRCh37 chr2:g.45646824A>G
gnomAD v2:
2:45646824 A / G
gnomAD v3:
2:45419685 A / G
gnomAD v4:
chr2-45419685-A-G
Joint Max Group AF 0.16384956 (AMR)
Genomes Max Group AF 0.12137477 (EAS)
Exomes Max Group AF 0.1815317 (AMR)
dbSNP:
3213787
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.45419685A>G , CM000664.2:g.45419685A>G GRCh38
NC_000002.11:g.45646824A>G , CM000664.1:g.45646824A>G GRCh37
NC_000002.10:g.45500328A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000263736.5:c.2156+103T>C MANE Select ENSP00000263736.4:n.2156+103T>C
ENST00000263736.4:c.2156+103T>C ENSP00000263736.4:n.2156+103T>C
ENST00000475073.5:n.480+103T>C
ENST00000490133.5:n.1053+103T>C
NM_018079.4:c.2156+103T>C NP_060549.4:n.2156+103T>C
XM_011532946.1:c.2108+103T>C XP_011531248.1:n.2108+103T>C
XR_426987.1:n.2150+103T>C
XR_939693.1:n.2058+103T>C
XM_011532946.2:c.2108+103T>C XP_011531248.1:n.2108+103T>C
XM_017004418.1:c.665+103T>C XP_016859907.1:n.665+103T>C
XR_001738804.2:n.2276+103T>C
XR_001738805.2:n.2149+103T>C
XR_001738806.2:n.2140+103T>C
XR_002959310.1:n.2193+103T>C
XR_939693.3:n.2057+103T>C
NM_018079.5:c.2156+103T>C MANE Select NP_060549.4:n.2156+103T>C
Search 100 bp 5'
Search 100 bp 3'