Canonical Allele Identifier: CA451935790

Gene: LAMA2

Linked Data

• dbSNP Id: rs201639153
• gnomAD v2: 6-129826431-C-T
• gnomAD v4: 6-129505286-C-T
• MyVariant Identifiers: chr6:g.129826431C>T (hg19) ; chr6:g.129505286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505286C>T , CM000668.2:g.129505286C>T	GRCh38
NC_000006.11:g.129826431C>T , CM000668.1:g.129826431C>T	GRCh37
NC_000006.10:g.129868124C>T	NCBI36
NG_008678.1:g.627146C>T , LRG_409:g.627146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.699C>T	ENSP00000510626.1:p.Ile233=
ENST00000498257.6:c.699C>T	ENSP00000510533.1:p.Ile233=
ENST00000617695.5:c.8622C>T	ENSP00000481744.2:p.Ile2874=
ENST00000618192.5:c.8898C>T	ENSP00000480802.2:p.Ile2966=
ENST00000688198.1:n.1612C>T
ENST00000688799.1:c.699C>T	ENSP00000508458.1:p.Ile233=
ENST00000690858.1:n.1628C>T
ENST00000693461.1:n.971C>T
ENST00000421865.3:c.8634C>T MANE Select	ENSP00000400365.2:p.Ile2878=
ENST00000421865.2:c.8634C>T	ENSP00000400365.2:p.Ile2878=
ENST00000617695.4:c.8622C>T	ENSP00000481744.1:p.Ile2874=
ENST00000618192.4:c.8631C>T	ENSP00000480802.1:p.Ile2877=
NM_000426.3:c.8634C>T , LRG_409t1:c.8634C>T	NP_000417.2:p.Ile2878=
NM_001079823.1:c.8622C>T	NP_001073291.1:p.Ile2874=
XM_005266981.2:c.8898C>T	XP_005267038.1:p.Ile2966=
XM_005266982.2:c.8886C>T	XP_005267039.1:p.Ile2962=
XM_011535820.1:c.8892C>T	XP_011534122.1:p.Ile2964=
XR_942984.1:n.1461-2495G>A
XR_942985.1:n.1325-2495G>A
XM_005266981.3:c.8898C>T	XP_005267038.1:p.Ile2966=
XM_005266982.3:c.8886C>T	XP_005267039.1:p.Ile2962=
XM_011535820.2:c.8892C>T	XP_011534122.1:p.Ile2964=
XM_017010851.2:c.8904C>T	XP_016866340.1:p.Ile2968=
XM_017010852.1:c.7029C>T	XP_016866341.1:p.Ile2343=
XR_001743859.1:n.3901-2495G>A
XR_001743860.1:n.1180-2495G>A
XR_001743861.1:n.1347-2495G>A
XR_001743863.1:n.883-2495G>A
XR_002956395.1:n.9132-2495G>A
XR_002956396.1:n.3127-2495G>A
NM_000426.4:c.8634C>T MANE Select	NP_000417.3:p.Ile2878=
NM_001079823.2:c.8622C>T	NP_001073291.2:p.Ile2874=