Canonical Allele Identifier: CA499227376

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956448-T-C
• MyVariant Identifiers: chr17:g.29283466T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956448T>C , CM000679.2:g.30956448T>C	GRCh38
NC_000017.10:g.29283466T>C , CM000679.1:g.29283466T>C	GRCh37
NC_000017.9:g.26307592T>C	NCBI36
NG_051975.1:g.39713T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1090T>C MANE Select	ENSP00000329468.3:p.Leu364=
ENST00000330889.7:c.1090T>C	ENSP00000329468.3:p.Leu364=
ENST00000470962.1:n.510T>C
ENST00000480980.1:n.524T>C
ENST00000580525.5:c.1108T>C	ENSP00000464121.1:p.Leu370=
ENST00000584828.5:c.402+57T>C
ENST00000585130.5:c.*689T>C	ENSP00000464120.1:n.*689T>C
NM_018404.2:c.1090T>C	NP_060874.1:p.Leu364=
XM_005258008.2:c.1108T>C	XP_005258065.1:p.Leu370=
XM_005258011.2:c.1045T>C	XP_005258068.1:p.Leu349=
XM_006721973.2:c.1051+57T>C	XP_006722036.1:n.1051+57T>C
XM_011524993.1:c.1105T>C	XP_011523295.1:p.Leu369=
XM_011524994.1:c.1087T>C	XP_011523296.1:p.Leu363=
NM_001346712.1:c.1108T>C	NP_001333641.1:p.Leu370=
NM_001346714.1:c.1087T>C	NP_001333643.1:p.Leu363=
NM_001346716.1:c.1033+57T>C	NP_001333645.1:n.1033+57T>C
NR_144488.1:n.1289T>C
XM_024450831.1:c.1090T>C	XP_024306599.1:p.Leu364=
XM_024450832.1:c.1105T>C	XP_024306600.1:p.Leu369=
XM_024450833.1:c.1045T>C	XP_024306601.1:p.Leu349=
XM_024450834.1:c.1051+57T>C	XP_024306602.1:n.1051+57T>C
XM_024450835.1:c.724T>C	XP_024306603.1:p.Leu242=
NM_018404.3:c.1090T>C MANE Select	NP_060874.1:p.Leu364=
NM_001346712.2:c.1108T>C	NP_001333641.1:p.Leu370=
NM_001346714.2:c.1087T>C	NP_001333643.1:p.Leu363=
NM_001346716.2:c.1033+57T>C	NP_001333645.1:n.1033+57T>C
NR_144488.2:n.1080T>C