Canonical Allele Identifier: CA2685351844

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142774194G>C , CM000669.2:g.142774194G>C GRCh38
NC_000007.13:g.142482054G>C , CM000669.1:g.142482054G>C GRCh37
NC_000007.12:g.142181997G>C NCBI36
NG_008322.2:g.8252G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000539842.6:c.591+139G>C (PRSS2) MANE Select ENSP00000488338.1:n.591+139G>C
ENST00000539842.5:c.591+139G>C (PRSS2) ENSP00000488338.1:n.591+139G>C
ENST00000610416.2:c.371-12844G>C (TRBC1) ENSP00000482915.1:n.371-12844G>C
ENST00000618750.2:n.424+156G>C (PRSS2)
ENST00000632805.1:c.588+139G>C (PRSS2) ENSP00000488077.1:n.588+139G>C
ENST00000632998.1:c.591+139G>C (PRSS2) ENSP00000488789.1:n.591+139G>C
ENST00000633114.1:c.597+139G>C (PRSS2) ENSP00000487822.1:n.597+139G>C
ENST00000633969.1:c.633+139G>C (PRSS2) ENSP00000488437.1:n.633+139G>C
ENST00000634019.1:c.633+139G>C (PRSS2) ENSP00000488594.1:n.633+139G>C
NM_001303414.1:c.633+139G>C (PRSS2) NP_001290343.1:n.633+139G>C
NM_002770.3:c.591+139G>C (PRSS2) NP_002761.1:n.591+139G>C
NR_130149.1:n.557+139G>C (PRSS2)
NM_002770.4:c.591+139G>C (PRSS2) MANE Select NP_002761.1:n.591+139G>C
NR_130149.2:n.530+139G>C (PRSS2)
NM_001303414.2:c.633+139G>C (PRSS2) NP_001290343.1:n.633+139G>C