Canonical Allele Identifier: CA365634825

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129505252-C-T
• MyVariant Identifiers: chr6:g.129826397C>T (hg19) ; chr6:g.129505252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505252C>T , CM000668.2:g.129505252C>T	GRCh38
NC_000006.11:g.129826397C>T , CM000668.1:g.129826397C>T	GRCh37
NC_000006.10:g.129868090C>T	NCBI36
NG_008678.1:g.627112C>T , LRG_409:g.627112C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.665C>T	ENSP00000510626.1:p.Ser222Phe
ENST00000498257.6:c.665C>T	ENSP00000510533.1:p.Ser222Phe
ENST00000617695.5:c.8588C>T	ENSP00000481744.2:p.Ser2863Phe
ENST00000618192.5:c.8864C>T	ENSP00000480802.2:p.Ser2955Phe
ENST00000688198.1:n.1578C>T
ENST00000688799.1:c.665C>T	ENSP00000508458.1:p.Ser222Phe
ENST00000690858.1:n.1594C>T
ENST00000693461.1:n.937C>T
ENST00000421865.3:c.8600C>T MANE Select	ENSP00000400365.2:p.Ser2867Phe
ENST00000421865.2:c.8600C>T	ENSP00000400365.2:p.Ser2867Phe
ENST00000617695.4:c.8588C>T	ENSP00000481744.1:p.Ser2863Phe
ENST00000618192.4:c.8597C>T	ENSP00000480802.1:p.Ser2866Phe
NM_000426.3:c.8600C>T , LRG_409t1:c.8600C>T	NP_000417.2:p.Ser2867Phe
NM_001079823.1:c.8588C>T	NP_001073291.1:p.Ser2863Phe
XM_005266981.2:c.8864C>T	XP_005267038.1:p.Ser2955Phe
XM_005266982.2:c.8852C>T	XP_005267039.1:p.Ser2951Phe
XM_011535820.1:c.8858C>T	XP_011534122.1:p.Ser2953Phe
XR_942984.1:n.1461-2461G>A
XR_942985.1:n.1325-2461G>A
XM_005266981.3:c.8864C>T	XP_005267038.1:p.Ser2955Phe
XM_005266982.3:c.8852C>T	XP_005267039.1:p.Ser2951Phe
XM_011535820.2:c.8858C>T	XP_011534122.1:p.Ser2953Phe
XM_017010851.2:c.8870C>T	XP_016866340.1:p.Ser2957Phe
XM_017010852.1:c.6995C>T	XP_016866341.1:p.Ser2332Phe
XR_001743859.1:n.3901-2461G>A
XR_001743860.1:n.1180-2461G>A
XR_001743861.1:n.1347-2461G>A
XR_001743863.1:n.883-2461G>A
XR_002956395.1:n.9132-2461G>A
XR_002956396.1:n.3127-2461G>A
NM_000426.4:c.8600C>T MANE Select	NP_000417.3:p.Ser2867Phe
NM_001079823.2:c.8588C>T	NP_001073291.2:p.Ser2863Phe