Canonical Allele Identifier: CA93471000

Gene: SLIT2

Linked Data

• dbSNP Id: rs540515007
• gnomAD v2: 4-20620939-G-C
• gnomAD v3: 4-20619316-G-C
• gnomAD v4: 4-20619316-G-C
• MyVariant Identifiers: chr4:g.20620939G>C (hg19) ; chr4:g.20619316G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.20619316G>C , CM000666.2:g.20619316G>C	GRCh38
NC_000004.11:g.20620939G>C , CM000666.1:g.20620939G>C	GRCh37
NC_000004.10:g.20230037G>C	NCBI36
NG_047105.1:g.372392G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504154.6:c.*307G>C MANE Select	ENSP00000422591.1:n.*307G>C
ENST00000504154.5:c.*307G>C	ENSP00000422591.1:n.*307G>C
ENST00000512993.1:c.237-1088G>C
ENST00000622093.4:c.*307G>C	ENSP00000482129.1:n.*307G>C
NM_001289135.1:c.*307G>C	NP_001276064.1:n.*307G>C
NM_001289135.2:c.*307G>C	NP_001276064.1:n.*307G>C
NM_001289136.1:c.*307G>C	NP_001276065.1:n.*307G>C
NM_001289136.2:c.*307G>C	NP_001276065.1:n.*307G>C
NM_004787.2:c.*307G>C	NP_004778.1:n.*307G>C
NM_004787.3:c.*307G>C	NP_004778.1:n.*307G>C
XM_005248211.2:c.*307G>C	XP_005248268.1:n.*307G>C
XM_006713986.2:c.*307G>C	XP_006714049.1:n.*307G>C
XM_011513909.1:c.*307G>C	XP_011512211.1:n.*307G>C
XM_011513910.1:c.*307G>C	XP_011512212.1:n.*307G>C
XM_005248211.3:c.*307G>C	XP_005248268.1:n.*307G>C
XM_006713986.3:c.*307G>C	XP_006714049.1:n.*307G>C
XM_011513909.2:c.*307G>C	XP_011512211.1:n.*307G>C
XM_011513910.2:c.*307G>C	XP_011512212.2:n.*307G>C
XM_017008845.1:c.*307G>C	XP_016864334.1:n.*307G>C
NM_004787.4:c.*307G>C MANE Select	NP_004778.1:n.*307G>C
NM_001289135.3:c.*307G>C	NP_001276064.1:n.*307G>C
NM_001289136.3:c.*307G>C	NP_001276065.1:n.*307G>C