Canonical Allele Identifier: CA346472790

Gene: PCARE

Linked Data

• dbSNP Id: rs372010073
• gnomAD v4: 2-29070642-G-A
• MyVariant Identifiers: chr2:g.29293508G>A (hg19) ; chr2:g.29070642G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070642G>A , CM000664.2:g.29070642G>A	GRCh38
NC_000002.11:g.29293508G>A , CM000664.1:g.29293508G>A	GRCh37
NC_000002.10:g.29147012G>A	NCBI36
NG_021427.1:g.8620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3620C>T MANE Select	ENSP00000332809.4:p.Thr1207Ile
ENST00000331664.5:c.3620C>T	ENSP00000332809.4:p.Thr1207Ile
NM_001029883.2:c.3620C>T	NP_001025054.1:p.Thr1207Ile
XM_011532826.1:c.3620C>T	XP_011531128.1:p.Thr1207Ile
XR_939901.1:n.185+1475G>A
XR_939902.1:n.173+1487G>A
NM_001029883.3:c.3620C>T MANE Select	NP_001025054.1:p.Thr1207Ile