Canonical Allele Identifier: CA834447000

Gene: PRSS2 TRBC1

Linked Data

• dbSNP Id: rs1293112711
• gnomAD v3: 7-142774180-G-T
• gnomAD v4: 7-142774180-G-T
• MyVariant Identifiers: chr7:g.142774180G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142774180G>T , CM000669.2:g.142774180G>T	GRCh38
NC_000007.13:g.142482040G>T , CM000669.1:g.142482040G>T	GRCh37
NC_000007.12:g.142181983G>T	NCBI36
NG_008322.2:g.8238G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539842.6:c.591+125G>T (PRSS2) MANE Select	ENSP00000488338.1:n.591+125G>T
ENST00000539842.5:c.591+125G>T (PRSS2)	ENSP00000488338.1:n.591+125G>T
ENST00000610416.2:c.371-12858G>T (TRBC1)	ENSP00000482915.1:n.371-12858G>T
ENST00000618750.2:n.424+142G>T (PRSS2)
ENST00000632805.1:c.588+125G>T (PRSS2)	ENSP00000488077.1:n.588+125G>T
ENST00000632998.1:c.591+125G>T (PRSS2)	ENSP00000488789.1:n.591+125G>T
ENST00000633114.1:c.597+125G>T (PRSS2)	ENSP00000487822.1:n.597+125G>T
ENST00000633969.1:c.633+125G>T (PRSS2)	ENSP00000488437.1:n.633+125G>T
ENST00000634019.1:c.633+125G>T (PRSS2)	ENSP00000488594.1:n.633+125G>T
NM_001303414.1:c.633+125G>T (PRSS2)	NP_001290343.1:n.633+125G>T
NM_002770.3:c.591+125G>T (PRSS2)	NP_002761.1:n.591+125G>T
NR_130149.1:n.557+125G>T (PRSS2)
NM_002770.4:c.591+125G>T (PRSS2) MANE Select	NP_002761.1:n.591+125G>T
NR_130149.2:n.530+125G>T (PRSS2)
NM_001303414.2:c.633+125G>T (PRSS2)	NP_001290343.1:n.633+125G>T