Canonical Allele Identifier: CA346480479
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1667519875
gnomAD v3: 2-29072964-G-T
gnomAD v4: 2-29072964-G-T
MyVariant Identifiers: chr2:g.29295830G>T (hg19) chr2:g.29072964G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072964G>T , CM000664.2:g.29072964G>T GRCh38
NC_000002.11:g.29295830G>T , CM000664.1:g.29295830G>T GRCh37
NC_000002.10:g.29149334G>T NCBI36
NG_021427.1:g.6298C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1298C>A MANE Select ENSP00000332809.4:p.Pro433Gln
ENST00000331664.5:c.1298C>A ENSP00000332809.4:p.Pro433Gln
NM_001029883.2:c.1298C>A NP_001025054.1:p.Pro433Gln
XM_011532826.1:c.1298C>A XP_011531128.1:p.Pro433Gln
XR_939901.1:n.185+3797G>T
XR_939902.1:n.173+3809G>T
NM_001029883.3:c.1298C>A MANE Select NP_001025054.1:p.Pro433Gln
Search 100 bp 5'
Search 100 bp 3'