Canonical Allele Identifier: CA12336375

Gene: ECT2L

Linked Data

• dbSNP Id: rs11155008
• gnomAD v2: 6-139137500-A-C
• gnomAD v3: 6-138816363-A-C
• gnomAD v4: 6-138816363-A-C
• MyVariant Identifiers: chr6:g.139137500A>C (hg19) ; chr6:g.138816363A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.138816363A>C , CM000668.2:g.138816363A>C	GRCh38
NC_000006.11:g.139137500A>C , CM000668.1:g.139137500A>C	GRCh37
NC_000006.10:g.139179193A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541398.7:c.179+1760A>C MANE Select	ENSP00000442307.2:n.179+1760A>C
ENST00000367682.6:c.179+1760A>C	ENSP00000356655.2:n.179+1760A>C
ENST00000401414.3:c.179+1760A>C	ENSP00000385187.2:n.179+1760A>C
ENST00000423192.5:c.179+1760A>C	ENSP00000387388.1:n.179+1760A>C
ENST00000541398.5:c.179+1760A>C	ENSP00000442307.2:n.179+1760A>C
NM_001077706.2:c.179+1760A>C	NP_001071174.1:n.179+1760A>C
NM_001195037.2:c.179+1760A>C	NP_001181966.1:n.179+1760A>C
XM_006715472.2:c.179+1760A>C	XP_006715535.1:n.179+1760A>C
XM_011535795.1:c.179+1760A>C	XP_011534097.1:n.179+1760A>C
XM_011535797.1:c.-29+3023A>C	XP_011534099.1:n.-29+3023A>C
XM_006715472.3:c.179+1760A>C	XP_006715535.1:n.179+1760A>C
XM_011535795.2:c.179+1760A>C	XP_011534097.1:n.179+1760A>C
XM_011535797.2:c.-29+3023A>C	XP_011534099.1:n.-29+3023A>C
XM_017010828.1:c.179+1760A>C	XP_016866317.1:n.179+1760A>C
XM_017010829.1:c.179+1760A>C	XP_016866318.1:n.179+1760A>C
XM_017010830.1:c.179+1760A>C	XP_016866319.1:n.179+1760A>C
NM_001077706.3:c.179+1760A>C MANE Select	NP_001071174.1:n.179+1760A>C