Canonical Allele Identifier: CA398979503

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956425-T-C
• MyVariant Identifiers: chr17:g.29283443T>C (hg19) ; chr17:g.30956425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956425T>C , CM000679.2:g.30956425T>C	GRCh38
NC_000017.10:g.29283443T>C , CM000679.1:g.29283443T>C	GRCh37
NC_000017.9:g.26307569T>C	NCBI36
NG_051975.1:g.39690T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1067T>C MANE Select	ENSP00000329468.3:p.Leu356Ser
ENST00000330889.7:c.1067T>C	ENSP00000329468.3:p.Leu356Ser
ENST00000470962.1:n.487T>C
ENST00000480980.1:n.501T>C
ENST00000580525.5:c.1085T>C	ENSP00000464121.1:p.Leu362Ser
ENST00000581285.5:c.983T>C	ENSP00000464155.1:p.Leu328Ser
ENST00000584828.5:c.402+34T>C
ENST00000585130.5:c.*666T>C	ENSP00000464120.1:n.*666T>C
NM_018404.2:c.1067T>C	NP_060874.1:p.Leu356Ser
XM_005258008.2:c.1085T>C	XP_005258065.1:p.Leu362Ser
XM_005258011.2:c.1022T>C	XP_005258068.1:p.Leu341Ser
XM_006721973.2:c.1051+34T>C	XP_006722036.1:n.1051+34T>C
XM_011524993.1:c.1082T>C	XP_011523295.1:p.Leu361Ser
XM_011524994.1:c.1064T>C	XP_011523296.1:p.Leu355Ser
NM_001346712.1:c.1085T>C	NP_001333641.1:p.Leu362Ser
NM_001346714.1:c.1064T>C	NP_001333643.1:p.Leu355Ser
NM_001346716.1:c.1033+34T>C	NP_001333645.1:n.1033+34T>C
NR_144488.1:n.1266T>C
XM_024450831.1:c.1067T>C	XP_024306599.1:p.Leu356Ser
XM_024450832.1:c.1082T>C	XP_024306600.1:p.Leu361Ser
XM_024450833.1:c.1022T>C	XP_024306601.1:p.Leu341Ser
XM_024450834.1:c.1051+34T>C	XP_024306602.1:n.1051+34T>C
XM_024450835.1:c.701T>C	XP_024306603.1:p.Leu234Ser
NM_018404.3:c.1067T>C MANE Select	NP_060874.1:p.Leu356Ser
NM_001346712.2:c.1085T>C	NP_001333641.1:p.Leu362Ser
NM_001346714.2:c.1064T>C	NP_001333643.1:p.Leu355Ser
NM_001346716.2:c.1033+34T>C	NP_001333645.1:n.1033+34T>C
NR_144488.2:n.1057T>C