Canonical Allele Identifier: CA566773856

Gene: PRPH2

Linked Data

• dbSNP Id: rs1339233400
• gnomAD v2: 6-42689251-A-ACC
• gnomAD v3: 6-42721513-A-ACC
• gnomAD v4: 6-42721513-A-ACC
• MyVariant Identifiers: chr6:g.42689251_42689252insCC (hg19) ; chr6:g.42721513_42721514insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721514_42721515dup , CM000668.2:g.42721514_42721515dup	GRCh38
NC_000006.11:g.42689252_42689253dup , CM000668.1:g.42689252_42689253dup	GRCh37
NC_000006.10:g.42797230_42797231dup	NCBI36
NG_009176.1:g.6106_6107dup
NG_009176.2:g.6106_6107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.581+239_581+240dup MANE Select	ENSP00000230381.5:n.581+239_581+240dup
ENST00000230381.6:c.581+239_581+240dup	ENSP00000230381.5:n.581+239_581+240dup
NM_000322.4:c.581+239_581+240dup	NP_000313.2:n.581+239_581+240dup
XR_427834.2:n.1236+239_1236+240dup
XR_926295.1:n.1236+239_1236+240dup
XR_427834.4:n.1286+239_1286+240dup
XR_926295.3:n.1286+239_1286+240dup
NM_000322.5:c.581+239_581+240dup MANE Select	NP_000313.2:n.581+239_581+240dup