Canonical Allele Identifier: CA499227895

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956539-G-T
• MyVariant Identifiers: chr17:g.29283557G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956539G>T , CM000679.2:g.30956539G>T	GRCh38
NC_000017.10:g.29283557G>T , CM000679.1:g.29283557G>T	GRCh37
NC_000017.9:g.26307683G>T	NCBI36
NG_051975.1:g.39804G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1111+70G>T MANE Select	ENSP00000329468.3:n.1111+70G>T
ENST00000330889.7:c.1111+70G>T	ENSP00000329468.3:n.1111+70G>T
ENST00000470962.1:n.531+70G>T
ENST00000480980.1:n.615G>T
ENST00000580525.5:c.1129+70G>T	ENSP00000464121.1:n.1129+70G>T
ENST00000584828.5:c.402+148G>T
ENST00000585130.5:c.*710+70G>T	ENSP00000464120.1:n.*710+70G>T
NM_018404.2:c.1111+70G>T	NP_060874.1:n.1111+70G>T
XM_005258008.2:c.1129+70G>T	XP_005258065.1:n.1129+70G>T
XM_005258011.2:c.1066+70G>T	XP_005258068.1:n.1066+70G>T
XM_006721973.2:c.1051+148G>T	XP_006722036.1:n.1051+148G>T
XM_011524993.1:c.1126+70G>T	XP_011523295.1:n.1126+70G>T
XM_011524994.1:c.1108+70G>T	XP_011523296.1:n.1108+70G>T
NM_001346712.1:c.1129+70G>T	NP_001333641.1:n.1129+70G>T
NM_001346714.1:c.1108+70G>T	NP_001333643.1:n.1108+70G>T
NM_001346716.1:c.1033+148G>T	NP_001333645.1:n.1033+148G>T
NR_144488.1:n.1310+70G>T
XM_024450831.1:c.1181G>T	XP_024306599.1:p.Arg394Met
XM_024450832.1:c.1126+70G>T	XP_024306600.1:n.1126+70G>T
XM_024450833.1:c.1066+70G>T	XP_024306601.1:n.1066+70G>T
XM_024450834.1:c.1051+148G>T	XP_024306602.1:n.1051+148G>T
XM_024450835.1:c.745+70G>T	XP_024306603.1:n.745+70G>T
NM_018404.3:c.1111+70G>T MANE Select	NP_060874.1:n.1111+70G>T
NM_001346712.2:c.1129+70G>T	NP_001333641.1:n.1129+70G>T
NM_001346714.2:c.1108+70G>T	NP_001333643.1:n.1108+70G>T
NM_001346716.2:c.1033+148G>T	NP_001333645.1:n.1033+148G>T
NR_144488.2:n.1101+70G>T