Canonical Allele Identifier: CA570058847

Gene: LAMA2

Linked Data

• dbSNP Id: rs1178906000
• gnomAD v2: 6-129834549-C-T
• gnomAD v3: 6-129513404-C-T
• gnomAD v4: 6-129513404-C-T
• MyVariant Identifiers: chr6:g.129834549C>T (hg19) ; chr6:g.129513404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129513404C>T , CM000668.2:g.129513404C>T	GRCh38
NC_000006.11:g.129834549C>T , CM000668.1:g.129834549C>T	GRCh37
NC_000006.10:g.129876242C>T	NCBI36
NG_008678.1:g.635264C>T , LRG_409:g.635264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.1053+911C>T	ENSP00000510626.1:n.1053+911C>T
ENST00000498257.6:c.1053+911C>T	ENSP00000510533.1:n.1053+911C>T
ENST00000617695.5:c.8976+911C>T	ENSP00000481744.2:n.8976+911C>T
ENST00000618192.5:c.9252+911C>T	ENSP00000480802.2:n.9252+911C>T
ENST00000688198.1:n.1966+911C>T
ENST00000688799.1:c.1053+911C>T	ENSP00000508458.1:n.1053+911C>T
ENST00000690858.1:n.2893C>T
ENST00000693461.1:n.1325+911C>T
ENST00000421865.3:c.8988+911C>T MANE Select	ENSP00000400365.2:n.8988+911C>T
ENST00000421865.2:c.8988+911C>T	ENSP00000400365.2:n.8988+911C>T
ENST00000617695.4:c.8976+911C>T	ENSP00000481744.1:n.8976+911C>T
ENST00000618192.4:c.8985+911C>T	ENSP00000480802.1:n.8985+911C>T
NM_000426.3:c.8988+911C>T , LRG_409t1:c.8988+911C>T	NP_000417.2:n.8988+911C>T
NM_001079823.1:c.8976+911C>T	NP_001073291.1:n.8976+911C>T
XM_005266981.2:c.9252+911C>T	XP_005267038.1:n.9252+911C>T
XM_005266982.2:c.9240+911C>T	XP_005267039.1:n.9240+911C>T
XM_011535820.1:c.9246+911C>T	XP_011534122.1:n.9246+911C>T
XR_942984.1:n.1460+9073G>A
XR_942985.1:n.1324+9073G>A
XM_005266981.3:c.9252+911C>T	XP_005267038.1:n.9252+911C>T
XM_005266982.3:c.9240+911C>T	XP_005267039.1:n.9240+911C>T
XM_011535820.2:c.9246+911C>T	XP_011534122.1:n.9246+911C>T
XM_017010851.2:c.9258+911C>T	XP_016866340.1:n.9258+911C>T
XM_017010852.1:c.7383+911C>T	XP_016866341.1:n.7383+911C>T
XR_001743859.1:n.3900+9073G>A
XR_001743860.1:n.1179+9073G>A
XR_001743861.1:n.1346+9073G>A
XR_001743863.1:n.883-10613G>A
XR_002956395.1:n.9131+9073G>A
XR_002956396.1:n.3126+9073G>A
NM_000426.4:c.8988+911C>T MANE Select	NP_000417.3:n.8988+911C>T
NM_001079823.2:c.8976+911C>T	NP_001073291.2:n.8976+911C>T