Canonical Allele Identifier: CA346480847
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29073136-C-T
MyVariant Identifiers: chr2:g.29296002C>T (hg19) chr2:g.29073136C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073136C>T , CM000664.2:g.29073136C>T GRCh38
NC_000002.11:g.29296002C>T , CM000664.1:g.29296002C>T GRCh37
NC_000002.10:g.29149506C>T NCBI36
NG_021427.1:g.6126G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1126G>A MANE Select ENSP00000332809.4:p.Glu376Lys
ENST00000331664.5:c.1126G>A ENSP00000332809.4:p.Glu376Lys
NM_001029883.2:c.1126G>A NP_001025054.1:p.Glu376Lys
XM_011532826.1:c.1126G>A XP_011531128.1:p.Glu376Lys
XR_939901.1:n.185+3969C>T
XR_939902.1:n.173+3981C>T
NM_001029883.3:c.1126G>A MANE Select NP_001025054.1:p.Glu376Lys
Search 100 bp 5'
Search 100 bp 3'