Canonical Allele Identifier: CA1562315

Gene: DRC1

Linked Data

• ClinVar Variation Id: 525424
• ClinVar RCV Id: RCV000629480 ; RCV002483770
• dbSNP Id: rs146412095
• ExAC: 2:26672954 G / A
• gnomAD v2: 2-26672954-G-A
• gnomAD v3: 2-26450086-G-A
• gnomAD v4: 2-26450086-G-A
• MyVariant Identifiers: chr2:g.26672954G>A (hg19) ; chr2:g.26450086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26450086G>A , CM000664.2:g.26450086G>A	GRCh38
NC_000002.11:g.26672954G>A , CM000664.1:g.26672954G>A	GRCh37
NC_000002.10:g.26526458G>A	NCBI36
NG_042824.1:g.53175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288710.7:c.1599+1G>A MANE Select	ENSP00000288710.2:n.1599+1G>A
ENST00000649059.1:c.1445+1G>A
ENST00000288710.6:c.1599+1G>A	ENSP00000288710.2:n.1599+1G>A
ENST00000439066.2:n.329+1G>A
NM_145038.3:c.1599+1G>A	NP_659475.2:n.1599+1G>A
NM_145038.4:c.1599+1G>A	NP_659475.2:n.1599+1G>A
XM_005264637.3:c.981+1G>A	XP_005264694.1:n.981+1G>A
XM_005264638.3:c.579+1G>A	XP_005264695.1:n.579+1G>A
XM_017005271.1:c.579+1G>A	XP_016860760.1:n.579+1G>A
XM_024453218.1:c.579+1G>A	XP_024308986.1:n.579+1G>A
NM_145038.5:c.1599+1G>A MANE Select	NP_659475.2:n.1599+1G>A