Canonical Allele Identifier: CA608251

Gene: PRAMEF2 HNRNPCL1

Linked Data

• ClinVar Variation Id: 2275029
• ClinVar RCV Id: RCV004128468
• dbSNP Id: rs141943881
• ExAC: 1:12921210 G / A
• gnomAD v2: 1-12921210-G-A
• gnomAD v3: 1-12861355-G-A
• gnomAD v4: 1-12861355-G-A
• MyVariant Identifiers: chr1:g.12921210G>A (hg19) ; chr1:g.12861355G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12861355G>A , CM000663.2:g.12861355G>A	GRCh38
NC_000001.10:g.12921210G>A , CM000663.1:g.12921210G>A	GRCh37
NC_000001.9:g.12843797G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240189.2:c.1001G>A (PRAMEF2) MANE Select	ENSP00000240189.2:p.Arg334His
ENST00000617044.1:c.-181-12885C>T (HNRNPCL1)	ENSP00000479365.1:n.-181-12885C>T
NM_023014.1:c.1001G>A (PRAMEF2) MANE Select	NP_075390.1:p.Arg334His
XM_011542004.1:c.266G>A (PRAMEF2)	XP_011540306.1:p.Arg89His