Canonical Allele Identifier: CA451936488
Gene: LAMA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.129837345G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129516200G>A , CM000668.2:g.129516200G>A GRCh38
NC_000006.11:g.129837345G>A , CM000668.1:g.129837345G>A GRCh37
NC_000006.10:g.129879038G>A NCBI36
NG_008678.1:g.638060G>A , LRG_409:g.638060G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.1287G>A ENSP00000510626.1:p.Lys429=
ENST00000498257.6:c.1287G>A ENSP00000510533.1:p.Lys429=
ENST00000617695.5:c.9210G>A ENSP00000481744.2:p.Lys3070=
ENST00000618192.5:c.9486G>A ENSP00000480802.2:p.Lys3162=
ENST00000688198.1:n.2200G>A
ENST00000688799.1:c.1287G>A ENSP00000508458.1:p.Lys429=
ENST00000690858.1:n.4095G>A
ENST00000693461.1:n.1559G>A
ENST00000421865.3:c.9222G>A MANE Select ENSP00000400365.2:p.Lys3074=
ENST00000421865.2:c.9222G>A ENSP00000400365.2:p.Lys3074=
ENST00000617695.4:c.9210G>A ENSP00000481744.1:p.Lys3070=
ENST00000618192.4:c.9219G>A ENSP00000480802.1:p.Lys3073=
NM_000426.3:c.9222G>A , LRG_409t1:c.9222G>A NP_000417.2:p.Lys3074=
NM_001079823.1:c.9210G>A NP_001073291.1:p.Lys3070=
XM_005266981.2:c.9486G>A XP_005267038.1:p.Lys3162=
XM_005266982.2:c.9474G>A XP_005267039.1:p.Lys3158=
XM_011535820.1:c.9480G>A XP_011534122.1:p.Lys3160=
XR_942984.1:n.1460+6277C>T
XR_942985.1:n.1324+6277C>T
XM_005266981.3:c.9486G>A XP_005267038.1:p.Lys3162=
XM_005266982.3:c.9474G>A XP_005267039.1:p.Lys3158=
XM_011535820.2:c.9480G>A XP_011534122.1:p.Lys3160=
XM_017010851.2:c.9492G>A XP_016866340.1:p.Lys3164=
XM_017010852.1:c.7617G>A XP_016866341.1:p.Lys2539=
XR_001743859.1:n.3900+6277C>T
XR_001743860.1:n.1179+6277C>T
XR_001743861.1:n.1346+6277C>T
XR_001743863.1:n.883-13409C>T
XR_002956395.1:n.9131+6277C>T
XR_002956396.1:n.3126+6277C>T
NM_000426.4:c.9222G>A MANE Select NP_000417.3:p.Lys3074=
NM_001079823.2:c.9210G>A NP_001073291.2:p.Lys3070=