Canonical Allele Identifier: CA1591915

Gene: PCARE

Linked Data

• dbSNP Id: rs1033892566
• ExAC: 2:29293638 T / G
• gnomAD v2: 2-29293638-T-G
• gnomAD v3: 2-29070772-T-G
• gnomAD v4: 2-29070772-T-G
• MyVariant Identifiers: chr2:g.29293638T>G (hg19) ; chr2:g.29293638_29293639delinsGC (hg19) ; chr2:g.29070772T>G (hg38) ; chr2:g.29070772_29070773delinsGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070772T>G , CM000664.2:g.29070772T>G	GRCh38
NC_000002.11:g.29293638T>G , CM000664.1:g.29293638T>G	GRCh37
NC_000002.10:g.29147142T>G	NCBI36
NG_021427.1:g.8490A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3490A>C MANE Select	ENSP00000332809.4:p.Lys1164Gln
ENST00000331664.5:c.3490A>C	ENSP00000332809.4:p.Lys1164Gln
NM_001029883.2:c.3490A>C	NP_001025054.1:p.Lys1164Gln
XM_011532826.1:c.3490A>C	XP_011531128.1:p.Lys1164Gln
XR_939901.1:n.185+1605T>G
XR_939902.1:n.173+1617T>G
NM_001029883.3:c.3490A>C MANE Select	NP_001025054.1:p.Lys1164Gln