Canonical Allele Identifier: CA398974890

Gene: ADAP2

Linked Data

• MyVariant Identifiers: chr17:g.29253848A>C (hg19) ; chr17:g.30926830A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30926830A>C , CM000679.2:g.30926830A>C	GRCh38
NC_000017.10:g.29253848A>C , CM000679.1:g.29253848A>C	GRCh37
NC_000017.9:g.26277974A>C	NCBI36
NG_051975.1:g.10095A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.229A>C MANE Select	ENSP00000329468.3:p.Met77Leu
ENST00000330889.7:c.229A>C	ENSP00000329468.3:p.Met77Leu
ENST00000580525.5:c.247A>C	ENSP00000464121.1:p.Met83Leu
ENST00000580526.1:c.225+3760A>C	ENSP00000462832.1:n.225+3760A>C
ENST00000581285.5:c.229A>C	ENSP00000464155.1:p.Met77Leu
ENST00000581548.5:c.-50+4722A>C	ENSP00000467079.1:n.-50+4722A>C
ENST00000585130.5:c.229A>C	ENSP00000464120.1:p.Met77Leu
NM_018404.2:c.229A>C	NP_060874.1:p.Met77Leu
XM_005258008.2:c.247A>C	XP_005258065.1:p.Met83Leu
XM_005258011.2:c.247A>C	XP_005258068.1:p.Met83Leu
XM_006721973.2:c.247A>C	XP_006722036.1:p.Met83Leu
XM_011524993.1:c.247A>C	XP_011523295.1:p.Met83Leu
XM_011524994.1:c.229A>C	XP_011523296.1:p.Met77Leu
NM_001346712.1:c.247A>C	NP_001333641.1:p.Met83Leu
NM_001346714.1:c.229A>C	NP_001333643.1:p.Met77Leu
NM_001346716.1:c.229A>C	NP_001333645.1:p.Met77Leu
NR_144488.1:n.508A>C
XM_024450831.1:c.229A>C	XP_024306599.1:p.Met77Leu
XM_024450832.1:c.247A>C	XP_024306600.1:p.Met83Leu
XM_024450833.1:c.247A>C	XP_024306601.1:p.Met83Leu
XM_024450834.1:c.247A>C	XP_024306602.1:p.Met83Leu
XM_024450835.1:c.-50+3760A>C	XP_024306603.1:n.-50+3760A>C
NM_018404.3:c.229A>C MANE Select	NP_060874.1:p.Met77Leu
NM_001346712.2:c.247A>C	NP_001333641.1:p.Met83Leu
NM_001346714.2:c.229A>C	NP_001333643.1:p.Met77Leu
NM_001346716.2:c.229A>C	NP_001333645.1:p.Met77Leu
NR_144488.2:n.299A>C