Canonical Allele Identifier: CA638338196

Gene: DGCR2

Linked Data

• dbSNP Id: rs1472864999
• gnomAD v2: 22-19046608-G-A
• gnomAD v3: 22-19059095-G-A
• gnomAD v4: 22-19059095-G-A
• MyVariant Identifiers: chr22:g.19046608G>A (hg19) ; chr22:g.19059095G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19059095G>A , CM000684.2:g.19059095G>A	GRCh38
NC_000022.10:g.19046608G>A , CM000684.1:g.19046608G>A	GRCh37
NC_000022.9:g.17426608G>A	NCBI36
NG_021333.1:g.68360C>T
NG_021333.2:g.68360C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263196.12:c.626-1933C>T MANE Select	ENSP00000263196.7:n.626-1933C>T
ENST00000263196.11:c.626-1933C>T	ENSP00000263196.7:n.626-1933C>T
ENST00000389262.8:c.-48+1471C>T	ENSP00000373914.4:n.-48+1471C>T
ENST00000473832.1:n.438-1933C>T
ENST00000537045.5:c.503-1933C>T	ENSP00000440062.1:n.503-1933C>T
ENST00000545799.5:c.626-1933C>T	ENSP00000445069.2:n.626-1933C>T
ENST00000608548.1:n.77-1933C>T
ENST00000615747.1:c.626-1933C>T	ENSP00000482494.1:n.626-1933C>T
NM_001173533.1:c.503-1933C>T	NP_001167004.1:n.503-1933C>T
NM_001173534.1:c.494-1933C>T	NP_001167005.1:n.494-1933C>T
NM_001184781.1:c.617-1933C>T	NP_001171710.1:n.617-1933C>T
NM_005137.2:c.626-1933C>T	NP_005128.1:n.626-1933C>T
NR_033674.1:n.759-1933C>T
XR_001755405.1:n.874-1933C>T
XR_001755406.2:n.823-1933C>T
NM_005137.3:c.626-1933C>T MANE Select	NP_005128.1:n.626-1933C>T
NM_001173534.2:c.494-1933C>T	NP_001167005.1:n.494-1933C>T
NM_001184781.2:c.617-1933C>T	NP_001171710.1:n.617-1933C>T
NR_033674.2:n.717-1933C>T
NM_001173533.2:c.503-1933C>T	NP_001167004.1:n.503-1933C>T