Canonical Allele Identifier: CA216244

Gene: NHERF2

Linked Data

• ClinVar Variation Id: 64483
• ClinVar RCV Id: RCV000054670
• dbSNP Id: rs387907540
• ExAC: 16:2086396 G / A
• gnomAD v2: 16-2086396-G-A
• gnomAD v3: 16-2036395-G-A
• gnomAD v4: 16-2036395-G-A
• MyVariant Identifiers: chr16:g.2086396G>A (hg19) ; chr16:g.2036395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2036395G>A , CM000678.2:g.2036395G>A	GRCh38
NC_000016.9:g.2086396G>A , CM000678.1:g.2086396G>A	GRCh37
NC_000016.8:g.2026397G>A	NCBI36
NG_047104.1:g.14528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424542.7:c.486G>A MANE Select	ENSP00000408005.2:p.Gly162=
ENST00000424542.6:c.486G>A	ENSP00000408005.2:p.Gly162=
ENST00000432365.6:c.486G>A	ENSP00000402857.2:p.Gly162=
ENST00000561844.5:c.101G>A
ENST00000563587.5:c.168G>A	ENSP00000455909.1:p.Gly56=
ENST00000564033.1:n.415G>A
ENST00000565086.1:n.481G>A
ENST00000565855.5:c.147G>A	ENSP00000454690.1:p.Gly49=
ENST00000566198.1:c.153G>A	ENSP00000456895.1:p.Gly51=
NM_001130012.2:c.486G>A	NP_001123484.1:p.Gly162=
NM_001252073.1:c.153G>A	NP_001239002.1:p.Gly51=
NM_001252075.1:c.147G>A	NP_001239004.1:p.Gly49=
NM_001252076.1:c.153G>A	NP_001239005.1:p.Gly51=
NM_004785.5:c.486G>A	NP_004776.3:p.Gly162=
XM_005255702.3:c.630G>A	XP_005255759.1:p.Gly210=
XM_005255703.1:c.81G>A	XP_005255760.1:p.Gly27=
XM_006720981.1:c.81G>A	XP_006721044.1:p.Gly27=
XM_005255702.4:c.630G>A	XP_005255759.1:p.Gly210=
XM_017023894.1:c.624G>A	XP_016879383.1:p.Gly208=
XM_017023895.2:c.318G>A	XP_016879384.1:p.Gly106=
XM_024450492.1:c.81G>A	XP_024306260.1:p.Gly27=
NM_001130012.3:c.486G>A MANE Select	NP_001123484.1:p.Gly162=
NM_001252073.2:c.153G>A	NP_001239002.1:p.Gly51=
NM_001252075.2:c.147G>A	NP_001239004.1:p.Gly49=
NM_001252076.2:c.153G>A	NP_001239005.1:p.Gly51=
NM_004785.6:c.486G>A	NP_004776.3:p.Gly162=