Canonical Allele Identifier: CA243900217

Gene: WSCD2

Linked Data

• dbSNP Id: rs189879358
• gnomAD v2: 12-108598236-A-C
• gnomAD v3: 12-108204459-A-C
• gnomAD v4: 12-108204459-A-C
• MyVariant Identifiers: chr12:g.108598236A>C (hg19) ; chr12:g.108204459A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108204459A>C , CM000674.2:g.108204459A>C	GRCh38
NC_000012.11:g.108598236A>C , CM000674.1:g.108598236A>C	GRCh37
NC_000012.10:g.107122366A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547525.6:c.383-1830A>C MANE Select	ENSP00000448047.1:n.383-1830A>C
ENST00000332082.8:c.383-1830A>C	ENSP00000331933.4:n.383-1830A>C
ENST00000547525.5:c.383-1830A>C	ENSP00000448047.1:n.383-1830A>C
ENST00000549903.1:c.383-1830A>C	ENSP00000447272.1:n.383-1830A>C
ENST00000551638.5:c.-77-1830A>C	ENSP00000446744.1:n.-77-1830A>C
NM_001304447.1:c.383-1830A>C	NP_001291376.1:n.383-1830A>C
NM_014653.3:c.383-1830A>C	NP_055468.2:n.383-1830A>C
XM_011539015.1:c.383-1830A>C	XP_011537317.1:n.383-1830A>C
XM_011539016.1:c.383-1830A>C	XP_011537318.1:n.383-1830A>C
XM_011539017.1:c.383-1830A>C	XP_011537319.1:n.383-1830A>C
XM_011539018.1:c.383-1830A>C	XP_011537320.1:n.383-1830A>C
XM_011539019.1:c.383-1830A>C	XP_011537321.1:n.383-1830A>C
XM_011539020.1:c.383-1830A>C	XP_011537322.1:n.383-1830A>C
XM_011539021.1:c.383-1830A>C	XP_011537323.1:n.383-1830A>C
XM_011539022.1:c.382+8245A>C	XP_011537324.1:n.382+8245A>C
XM_011539023.1:c.383-1830A>C	XP_011537325.1:n.383-1830A>C
XR_944841.1:n.1675-1830A>C
XR_945322.1:n.233-13440T>G
XM_017020243.1:c.383-1830A>C	XP_016875732.1:n.383-1830A>C
XM_017020244.1:c.383-1830A>C	XP_016875733.1:n.383-1830A>C
XM_017020245.1:c.383-1830A>C	XP_016875734.1:n.383-1830A>C
XM_017020246.2:c.383-1830A>C	XP_016875735.1:n.383-1830A>C
XM_017020247.1:c.383-1830A>C	XP_016875736.1:n.383-1830A>C
XM_017020248.1:c.383-1830A>C	XP_016875737.1:n.383-1830A>C
XM_017020249.1:c.382+8245A>C	XP_016875738.1:n.382+8245A>C
XM_017020250.2:c.382+8245A>C	XP_016875739.1:n.382+8245A>C
XM_017020251.2:c.382+8245A>C	XP_016875740.1:n.382+8245A>C
XM_017020252.1:c.382+8245A>C	XP_016875741.1:n.382+8245A>C
XR_001748924.2:n.1294-1830A>C
XR_001748925.2:n.1046-1830A>C
XR_001748926.2:n.1293+8245A>C
XR_001749307.1:n.130-13440T>G
XR_001749308.1:n.322-13440T>G
XR_001749309.1:n.138-13440T>G
XR_001749310.1:n.130-13440T>G
XR_001749311.1:n.130-13440T>G
XR_001749312.1:n.130-13440T>G
XR_001749313.1:n.130-13440T>G
XR_001749314.1:n.130-13440T>G
XR_944841.2:n.1675-1830A>C
NM_014653.4:c.383-1830A>C MANE Select	NP_055468.2:n.383-1830A>C
NM_001304447.2:c.383-1830A>C	NP_001291376.1:n.383-1830A>C