Canonical Allele Identifier: CA49649614

Gene: ADD2

Linked Data

• dbSNP Id: rs148658198
• gnomAD v2: 2-70974950-G-A
• gnomAD v3: 2-70747818-G-A
• gnomAD v4: 2-70747818-G-A
• MyVariant Identifiers: chr2:g.70974950G>A (hg19) ; chr2:g.70747818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70747818G>A , CM000664.2:g.70747818G>A	GRCh38
NC_000002.11:g.70974950G>A , CM000664.1:g.70974950G>A	GRCh37
NC_000002.10:g.70828458G>A	NCBI36
NG_029481.1:g.25426C>T
NG_029481.2:g.25426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264436.9:c.-154+20068C>T MANE Select	ENSP00000264436.3:n.-154+20068C>T
ENST00000264436.8:c.-154+20068C>T	ENSP00000264436.3:n.-154+20068C>T
ENST00000355733.7:c.-154+20068C>T	ENSP00000347972.3:n.-154+20068C>T
ENST00000403045.6:c.-154+20068C>T	ENSP00000384303.2:n.-154+20068C>T
ENST00000407644.6:c.-154+19786C>T	ENSP00000384677.2:n.-154+19786C>T
ENST00000413157.6:c.-154+20068C>T	ENSP00000388072.2:n.-154+20068C>T
ENST00000425976.5:c.-154+19512C>T	ENSP00000412681.1:n.-154+19512C>T
ENST00000430656.5:c.14+20068C>T	ENSP00000398112.1:n.14+20068C>T
ENST00000447731.6:c.-219-6412C>T	ENSP00000403722.1:n.-219-6412C>T
ENST00000473232.1:n.315+20068C>T
ENST00000496178.1:n.436+12788C>T
NM_001185054.1:c.-154+19786C>T	NP_001171983.1:n.-154+19786C>T
NM_001185055.1:c.14+20068C>T	NP_001171984.1:n.14+20068C>T
NM_001617.3:c.-154+20068C>T	NP_001608.1:n.-154+20068C>T
NM_017482.3:c.-154+20068C>T	NP_059516.2:n.-154+20068C>T
NM_017488.3:c.-154+20068C>T	NP_059522.1:n.-154+20068C>T
XM_011532503.1:c.-272+20068C>T	XP_011530805.1:n.-272+20068C>T
NM_001617.4:c.-154+20068C>T MANE Select	NP_001608.1:n.-154+20068C>T
NM_001185055.2:c.14+20068C>T	NP_001171984.1:n.14+20068C>T
NM_017482.4:c.-154+20068C>T	NP_059516.2:n.-154+20068C>T
NM_017488.4:c.-154+20068C>T	NP_059522.1:n.-154+20068C>T
NM_001185054.2:c.-154+19786C>T	NP_001171983.1:n.-154+19786C>T