Canonical Allele Identifier: CA238603
Gene: LAMA2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.128883258G>A
GRCh37 chr6:g.129204403G>A
Revel Score:
ENST00000358023 0.055
ENST00000354729 0.055
ENST00000421865 (MANE Select) 0.055
gnomAD v2:
6:129204403 G / A
gnomAD v3:
6:128883258 G / A
gnomAD v4:
chr6-128883258-G-A
Joint Max Group AF 0.00012629 (NFE)
Genomes Max Group AF 0.00018199 (NFE)
Exomes Max Group AF 0.00011766 (NFE)
ClinVar RCV:
RCV000173131
RCV000818174
ClinVar Variation:
193095
dbSNP:
367622987
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.128883258G>A , CM000668.2:g.128883258G>A GRCh38
NC_000006.11:g.129204403G>A , CM000668.1:g.129204403G>A GRCh37
NC_000006.10:g.129246096G>A NCBI36
NG_008678.1:g.5118G>A , LRG_409:g.5118G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.13G>A ENSP00000481744.2:p.Ala5Thr
ENST00000618192.5:c.13G>A ENSP00000480802.2:p.Ala5Thr
ENST00000686577.1:n.79G>A
ENST00000686599.1:n.118G>A
ENST00000421865.3:c.13G>A MANE Select ENSP00000400365.2:p.Ala5Thr
ENST00000421865.2:c.13G>A ENSP00000400365.2:p.Ala5Thr
ENST00000617695.4:c.13G>A ENSP00000481744.1:p.Ala5Thr
ENST00000618192.4:c.13G>A ENSP00000480802.1:p.Ala5Thr
NM_000426.3:c.13G>A , LRG_409t1:c.13G>A NP_000417.2:p.Ala5Thr
NM_001079823.1:c.13G>A NP_001073291.1:p.Ala5Thr
XM_005266981.2:c.13G>A XP_005267038.1:p.Ala5Thr
XM_005266982.2:c.13G>A XP_005267039.1:p.Ala5Thr
XM_011535820.1:c.13G>A XP_011534122.1:p.Ala5Thr
XM_005266981.3:c.13G>A XP_005267038.1:p.Ala5Thr
XM_005266982.3:c.13G>A XP_005267039.1:p.Ala5Thr
XM_011535820.2:c.13G>A XP_011534122.1:p.Ala5Thr
XM_017010853.1:c.13G>A XP_016866342.1:p.Ala5Thr
NM_000426.4:c.13G>A MANE Select NP_000417.3:p.Ala5Thr
NM_001079823.2:c.13G>A NP_001073291.2:p.Ala5Thr
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