Canonical Allele Identifier: CA2701458274

Linked Data

dbSNP Id: rs2105937449

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033785G>C , CM000664.2:g.216033785G>C GRCh38
NC_000002.11:g.216898508G>C , CM000664.1:g.216898508G>C GRCh37
NC_000002.10:g.216606753G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424992.5:c.-68+177C>G (MREG) ENSP00000413302.1:n.-68+177C>G
ENST00000439791.5:c.-170C>G (MREG) ENSP00000411076.1:n.-170C>G
ENST00000442122.5:c.*440+5406C>G (PECR) ENSP00000395512.1:n.*440+5406C>G
XR_001738847.2:n.1056-933C>G (PECR)
NM_001372189.1:c.-68+177C>G (MREG) NP_001359118.1:n.-68+177C>G
NM_001372190.1:c.-170C>G (MREG) NP_001359119.1:n.-170C>G