Canonical Allele Identifier: CA398979460

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956408-G-C
• MyVariant Identifiers: chr17:g.29283426G>C (hg19) ; chr17:g.30956408G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956408G>C , CM000679.2:g.30956408G>C	GRCh38
NC_000017.10:g.29283426G>C , CM000679.1:g.29283426G>C	GRCh37
NC_000017.9:g.26307552G>C	NCBI36
NG_051975.1:g.39673G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1050G>C MANE Select	ENSP00000329468.3:p.Gln350His
ENST00000330889.7:c.1050G>C	ENSP00000329468.3:p.Gln350His
ENST00000470962.1:n.470G>C
ENST00000480980.1:n.484G>C
ENST00000580525.5:c.1068G>C	ENSP00000464121.1:p.Gln356His
ENST00000581285.5:c.966G>C	ENSP00000464155.1:p.Gln322His
ENST00000584828.5:c.402+17G>C
ENST00000585130.5:c.*649G>C	ENSP00000464120.1:n.*649G>C
NM_018404.2:c.1050G>C	NP_060874.1:p.Gln350His
XM_005258008.2:c.1068G>C	XP_005258065.1:p.Gln356His
XM_005258011.2:c.1005G>C	XP_005258068.1:p.Gln335His
XM_006721973.2:c.1051+17G>C	XP_006722036.1:n.1051+17G>C
XM_011524993.1:c.1065G>C	XP_011523295.1:p.Gln355His
XM_011524994.1:c.1047G>C	XP_011523296.1:p.Gln349His
NM_001346712.1:c.1068G>C	NP_001333641.1:p.Gln356His
NM_001346714.1:c.1047G>C	NP_001333643.1:p.Gln349His
NM_001346716.1:c.1033+17G>C	NP_001333645.1:n.1033+17G>C
NR_144488.1:n.1249G>C
XM_024450831.1:c.1050G>C	XP_024306599.1:p.Gln350His
XM_024450832.1:c.1065G>C	XP_024306600.1:p.Gln355His
XM_024450833.1:c.1005G>C	XP_024306601.1:p.Gln335His
XM_024450834.1:c.1051+17G>C	XP_024306602.1:n.1051+17G>C
XM_024450835.1:c.684G>C	XP_024306603.1:p.Gln228His
NM_018404.3:c.1050G>C MANE Select	NP_060874.1:p.Gln350His
NM_001346712.2:c.1068G>C	NP_001333641.1:p.Gln356His
NM_001346714.2:c.1047G>C	NP_001333643.1:p.Gln349His
NM_001346716.2:c.1033+17G>C	NP_001333645.1:n.1033+17G>C
NR_144488.2:n.1040G>C