Canonical Allele Identifier: CA1592445
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs761125693
ExAC: 2:29295793 G / A
gnomAD v2: 2-29295793-G-A
gnomAD v3: 2-29072927-G-A
gnomAD v4: 2-29072927-G-A
MyVariant Identifiers: chr2:g.29295793G>A (hg19) chr2:g.29072927G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072927G>A , CM000664.2:g.29072927G>A GRCh38
NC_000002.11:g.29295793G>A , CM000664.1:g.29295793G>A GRCh37
NC_000002.10:g.29149297G>A NCBI36
NG_021427.1:g.6335C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1335C>T MANE Select ENSP00000332809.4:p.Ser445=
ENST00000331664.5:c.1335C>T ENSP00000332809.4:p.Ser445=
NM_001029883.2:c.1335C>T NP_001025054.1:p.Ser445=
XM_011532826.1:c.1335C>T XP_011531128.1:p.Ser445=
XR_939901.1:n.185+3760G>A
XR_939902.1:n.173+3772G>A
NM_001029883.3:c.1335C>T MANE Select NP_001025054.1:p.Ser445=
Search 100 bp 5'
Search 100 bp 3'