Canonical Allele Identifier: CA119273

Gene: PRSS2 TRBC1

Linked Data

• ClinVar Variation Id: 8070
• ClinVar RCV Id: RCV000008536
• dbSNP Id: rs61734659
• gnomAD v3: 7-142774035-G-A
• gnomAD v4: 7-142774035-G-A
• MyVariant Identifiers: chr7:g.142481892G>A (hg19) ; chr7:g.142774035G>A (hg38)
• PubMed: PMID:16699518

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142774035G>A , CM000669.2:g.142774035G>A	GRCh38
NC_000007.13:g.142481892G>A , CM000669.1:g.142481892G>A	GRCh37
NC_000007.12:g.142181838G>A	NCBI36
NG_008322.2:g.8093G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539842.6:c.571G>A (PRSS2) MANE Select	ENSP00000488338.1:p.Gly191Arg
ENST00000539842.5:c.571G>A (PRSS2)	ENSP00000488338.1:p.Gly191Arg
ENST00000610416.2:c.371-13003G>A (TRBC1)	ENSP00000482915.1:n.371-13003G>A
ENST00000618750.2:n.421G>A (PRSS2)
ENST00000632805.1:c.568G>A (PRSS2)	ENSP00000488077.1:p.Gly190Arg
ENST00000632998.1:c.571G>A (PRSS2)	ENSP00000488789.1:p.Gly191Arg
ENST00000633114.1:c.577G>A (PRSS2)	ENSP00000487822.1:p.Gly193Arg
ENST00000633969.1:c.613G>A (PRSS2)	ENSP00000488437.1:p.Gly205Arg
ENST00000634019.1:c.613G>A (PRSS2)	ENSP00000488594.1:p.Gly205Arg
NM_001303414.1:c.613G>A (PRSS2)	NP_001290343.1:p.Gly205Arg
NM_002770.3:c.571G>A (PRSS2)	NP_002761.1:p.Gly191Arg
NR_130149.1:n.537G>A (PRSS2)
NM_002770.4:c.571G>A (PRSS2) MANE Select	NP_002761.1:p.Gly191Arg
NR_130149.2:n.510G>A (PRSS2)
NM_001303414.2:c.613G>A (PRSS2)	NP_001290343.1:p.Gly205Arg