Canonical Allele Identifier: CA216242

Gene: NHERF2

Linked Data

• ClinVar Variation Id: 64482
• ClinVar RCV Id: RCV000054669
• dbSNP Id: rs387907539
• gnomAD v4: 16-2029620-G-A
• MyVariant Identifiers: chr16:g.2079621G>A (hg19) ; chr16:g.2029620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2029620G>A , CM000678.2:g.2029620G>A	GRCh38
NC_000016.9:g.2079621G>A , CM000678.1:g.2079621G>A	GRCh37
NC_000016.8:g.2019622G>A	NCBI36
NG_047104.1:g.7753G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424542.7:c.252G>A MANE Select	ENSP00000408005.2:p.Arg84=
ENST00000424542.6:c.252G>A	ENSP00000408005.2:p.Arg84=
ENST00000432365.6:c.252G>A	ENSP00000402857.2:p.Arg84=
ENST00000563587.5:c.-67G>A	ENSP00000455909.1:n.-67G>A
ENST00000567504.5:c.225G>A	ENSP00000454361.1:p.Arg75=
NM_001130012.2:c.252G>A	NP_001123484.1:p.Arg84=
NM_004785.5:c.252G>A	NP_004776.3:p.Arg84=
XM_017023895.2:c.84G>A	XP_016879384.1:p.Arg28=
NM_001130012.3:c.252G>A MANE Select	NP_001123484.1:p.Arg84=
NM_004785.6:c.252G>A	NP_004776.3:p.Arg84=