Canonical Allele Identifier: CA451935769

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2703189
• ClinVar RCV Id: RCV003582290
• MyVariant Identifiers: chr6:g.129826410C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505265C>T , CM000668.2:g.129505265C>T	GRCh38
NC_000006.11:g.129826410C>T , CM000668.1:g.129826410C>T	GRCh37
NC_000006.10:g.129868103C>T	NCBI36
NG_008678.1:g.627125C>T , LRG_409:g.627125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.678C>T	ENSP00000510626.1:p.Ile226=
ENST00000498257.6:c.678C>T	ENSP00000510533.1:p.Ile226=
ENST00000617695.5:c.8601C>T	ENSP00000481744.2:p.Ile2867=
ENST00000618192.5:c.8877C>T	ENSP00000480802.2:p.Ile2959=
ENST00000688198.1:n.1591C>T
ENST00000688799.1:c.678C>T	ENSP00000508458.1:p.Ile226=
ENST00000690858.1:n.1607C>T
ENST00000693461.1:n.950C>T
ENST00000421865.3:c.8613C>T MANE Select	ENSP00000400365.2:p.Ile2871=
ENST00000421865.2:c.8613C>T	ENSP00000400365.2:p.Ile2871=
ENST00000617695.4:c.8601C>T	ENSP00000481744.1:p.Ile2867=
ENST00000618192.4:c.8610C>T	ENSP00000480802.1:p.Ile2870=
NM_000426.3:c.8613C>T , LRG_409t1:c.8613C>T	NP_000417.2:p.Ile2871=
NM_001079823.1:c.8601C>T	NP_001073291.1:p.Ile2867=
XM_005266981.2:c.8877C>T	XP_005267038.1:p.Ile2959=
XM_005266982.2:c.8865C>T	XP_005267039.1:p.Ile2955=
XM_011535820.1:c.8871C>T	XP_011534122.1:p.Ile2957=
XR_942984.1:n.1461-2474G>A
XR_942985.1:n.1325-2474G>A
XM_005266981.3:c.8877C>T	XP_005267038.1:p.Ile2959=
XM_005266982.3:c.8865C>T	XP_005267039.1:p.Ile2955=
XM_011535820.2:c.8871C>T	XP_011534122.1:p.Ile2957=
XM_017010851.2:c.8883C>T	XP_016866340.1:p.Ile2961=
XM_017010852.1:c.7008C>T	XP_016866341.1:p.Ile2336=
XR_001743859.1:n.3901-2474G>A
XR_001743860.1:n.1180-2474G>A
XR_001743861.1:n.1347-2474G>A
XR_001743863.1:n.883-2474G>A
XR_002956395.1:n.9132-2474G>A
XR_002956396.1:n.3127-2474G>A
NM_000426.4:c.8613C>T MANE Select	NP_000417.3:p.Ile2871=
NM_001079823.2:c.8601C>T	NP_001073291.2:p.Ile2867=