Canonical Allele Identifier: CA358635

Gene: GEN1 SMC6

Linked Data

• ClinVar Variation Id: 223811
• ClinVar RCV Id: RCV000209606
• dbSNP Id: rs144389157
• gnomAD v2: 2-17938911-A-T
• gnomAD v3: 2-17757644-A-T
• gnomAD v4: 2-17757644-A-T
• MyVariant Identifiers: chr2:g.17938911A>T (hg19) ; chr2:g.17757644A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.17757644A>T , CM000664.2:g.17757644A>T	GRCh38
NC_000002.11:g.17938911A>T , CM000664.1:g.17938911A>T	GRCh37
NC_000002.10:g.17802392A>T	NCBI36
NG_051292.1:g.8958A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381254.7:c.-15-2285A>T (GEN1) MANE Select	ENSP00000370653.2:n.-15-2285A>T
ENST00000317402.11:c.-15-2285A>T (GEN1)	ENSP00000318977.7:n.-15-2285A>T
ENST00000381254.6:c.-15-2285A>T (GEN1)	ENSP00000370653.2:n.-15-2285A>T
ENST00000402989.5:c.-5-11693T>A (SMC6)	ENSP00000384539.1:n.-5-11693T>A
ENST00000428868.1:c.-5-11693T>A (SMC6)	ENSP00000415352.1:n.-5-11693T>A
ENST00000524465.5:c.-15-2285A>T (GEN1)	ENSP00000435143.1:n.-15-2285A>T
ENST00000532257.1:c.-32-2268A>T (GEN1)	ENSP00000433180.1:n.-32-2268A>T
NM_001130009.1:c.-15-2285A>T (GEN1)	NP_001123481.1:n.-15-2285A>T
NM_182625.3:c.-15-2285A>T (GEN1)	NP_872431.3:n.-15-2285A>T
XM_005262613.3:c.-12-2288A>T (GEN1)	XP_005262670.1:n.-12-2288A>T
XM_006712005.2:c.-12-2288A>T (GEN1)	XP_006712068.1:n.-12-2288A>T
XM_011532820.1:c.-32-2268A>T (GEN1)	XP_011531122.1:n.-32-2268A>T
XM_011532821.1:c.-32-2268A>T (GEN1)	XP_011531123.1:n.-32-2268A>T
XM_011532822.1:c.-15-2285A>T (GEN1)	XP_011531124.1:n.-15-2285A>T
NM_001130009.2:c.-15-2285A>T (GEN1)	NP_001123481.2:n.-15-2285A>T
NM_182625.4:c.-15-2285A>T (GEN1)	NP_872431.4:n.-15-2285A>T
XM_005262613.4:c.-12-2288A>T (GEN1)	XP_005262670.1:n.-12-2288A>T
XM_006712005.3:c.-12-2288A>T (GEN1)	XP_006712068.1:n.-12-2288A>T
XM_011532820.2:c.-32-2268A>T (GEN1)	XP_011531122.1:n.-32-2268A>T
XM_011532821.2:c.-32-2268A>T (GEN1)	XP_011531123.1:n.-32-2268A>T
XM_011532822.2:c.-15-2285A>T (GEN1)	XP_011531124.1:n.-15-2285A>T
NM_001130009.3:c.-15-2285A>T (GEN1) MANE Select	NP_001123481.3:n.-15-2285A>T
NM_182625.5:c.-15-2285A>T (GEN1)	NP_872431.5:n.-15-2285A>T