Canonical Allele Identifier: CA425617768
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29073146-G-A
MyVariant Identifiers: chr2:g.29296012G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073146G>A , CM000664.2:g.29073146G>A GRCh38
NC_000002.11:g.29296012G>A , CM000664.1:g.29296012G>A GRCh37
NC_000002.10:g.29149516G>A NCBI36
NG_021427.1:g.6116C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1116C>T MANE Select ENSP00000332809.4:p.Asp372=
ENST00000331664.5:c.1116C>T ENSP00000332809.4:p.Asp372=
NM_001029883.2:c.1116C>T NP_001025054.1:p.Asp372=
XM_011532826.1:c.1116C>T XP_011531128.1:p.Asp372=
XR_939901.1:n.185+3979G>A
XR_939902.1:n.173+3991G>A
NM_001029883.3:c.1116C>T MANE Select NP_001025054.1:p.Asp372=
Search 100 bp 5'
Search 100 bp 3'