Canonical Allele Identifier: CA14968625

Gene: L3MBTL2 CHADL

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41225710G>A , CM000684.2:g.41225710G>A	GRCh38
NC_000022.10:g.41621714G>A , CM000684.1:g.41621714G>A	GRCh37
NC_000022.9:g.39951660G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216237.10:c.1357-84G>A (L3MBTL2) MANE Select	ENSP00000216237.5:n.1357-84G>A
ENST00000216237.9:c.1357-84G>A (L3MBTL2)	ENSP00000216237.5:n.1357-84G>A
ENST00000452106.5:c.1357-84G>A (L3MBTL2)	ENSP00000414423.1:n.1357-84G>A
ENST00000466589.5:n.1411-84G>A (L3MBTL2)
ENST00000479978.5:n.3615-84G>A (L3MBTL2)
ENST00000481902.5:n.1480-84G>A (L3MBTL2)
NM_031488.4:c.1357-84G>A (L3MBTL2)	NP_113676.2:n.1357-84G>A
XM_005261370.2:c.*193+2564C>T (CHADL)	XP_005261427.1:n.*193+2564C>T
XM_011529932.1:c.*193+2564C>T (CHADL)	XP_011528234.1:n.*193+2564C>T
XM_011529934.1:c.2466+9435C>T (CHADL)	XP_011528236.1:n.2466+9435C>T
XM_011530420.1:c.1303-84G>A (L3MBTL2)	XP_011528722.1:n.1303-84G>A
XM_011530421.1:c.1084-84G>A (L3MBTL2)	XP_011528723.1:n.1084-84G>A
XR_937933.1:n.1408-84G>A (L3MBTL2)
XM_011530420.2:c.1303-84G>A (L3MBTL2)	XP_011528722.1:n.1303-84G>A
XM_011530421.3:c.1084-84G>A (L3MBTL2)	XP_011528723.1:n.1084-84G>A
XM_017028976.1:c.1105-84G>A (L3MBTL2)	XP_016884465.1:n.1105-84G>A
XM_017028977.1:c.1027-84G>A (L3MBTL2)	XP_016884466.1:n.1027-84G>A
XM_017028978.1:c.727-84G>A (L3MBTL2)	XP_016884467.1:n.727-84G>A
XM_017028979.1:c.727-84G>A (L3MBTL2)	XP_016884468.1:n.727-84G>A
XM_017028980.2:c.466-84G>A (L3MBTL2)	XP_016884469.1:n.466-84G>A
XM_024452279.1:c.727-84G>A (L3MBTL2)	XP_024308047.1:n.727-84G>A
XR_001755320.2:n.1408-84G>A (L3MBTL2)
XR_001755321.2:n.1408-84G>A (L3MBTL2)
XR_001755322.2:n.1408-84G>A (L3MBTL2)
XR_002958718.1:n.2155-84G>A (L3MBTL2)
XR_002958719.1:n.1737-84G>A (L3MBTL2)
NM_031488.5:c.1357-84G>A (L3MBTL2) MANE Select	NP_113676.2:n.1357-84G>A