Canonical Allele Identifier: CA365634181

Gene: LAMA2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503194G>C , CM000668.2:g.129503194G>C	GRCh38
NC_000006.11:g.129824339G>C , CM000668.1:g.129824339G>C	GRCh37
NC_000006.10:g.129866032G>C	NCBI36
NG_008678.1:g.625054G>C , LRG_409:g.625054G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.526G>C	ENSP00000510626.1:p.Gly176Arg
ENST00000498257.6:c.526G>C	ENSP00000510533.1:p.Gly176Arg
ENST00000617695.5:c.8449G>C	ENSP00000481744.2:p.Gly2817Arg
ENST00000618192.5:c.8725G>C	ENSP00000480802.2:p.Gly2909Arg
ENST00000688198.1:n.1439G>C
ENST00000688799.1:c.526G>C	ENSP00000508458.1:p.Gly176Arg
ENST00000690858.1:n.1455G>C
ENST00000693461.1:n.798G>C
ENST00000421865.3:c.8461G>C MANE Select	ENSP00000400365.2:p.Gly2821Arg
ENST00000421865.2:c.8461G>C	ENSP00000400365.2:p.Gly2821Arg
ENST00000617695.4:c.8449G>C	ENSP00000481744.1:p.Gly2817Arg
ENST00000618192.4:c.8458G>C	ENSP00000480802.1:p.Gly2820Arg
NM_000426.3:c.8461G>C , LRG_409t1:c.8461G>C	NP_000417.2:p.Gly2821Arg
NM_001079823.1:c.8449G>C	NP_001073291.1:p.Gly2817Arg
XM_005266981.2:c.8725G>C	XP_005267038.1:p.Gly2909Arg
XM_005266982.2:c.8713G>C	XP_005267039.1:p.Gly2905Arg
XM_011535820.1:c.8719G>C	XP_011534122.1:p.Gly2907Arg
XR_942984.1:n.1461-403C>G
XR_942985.1:n.1325-403C>G
XM_005266981.3:c.8725G>C	XP_005267038.1:p.Gly2909Arg
XM_005266982.3:c.8713G>C	XP_005267039.1:p.Gly2905Arg
XM_011535820.2:c.8719G>C	XP_011534122.1:p.Gly2907Arg
XM_017010851.2:c.8731G>C	XP_016866340.1:p.Gly2911Arg
XM_017010852.1:c.6856G>C	XP_016866341.1:p.Gly2286Arg
XR_001743859.1:n.3901-403C>G
XR_001743860.1:n.1180-403C>G
XR_001743861.1:n.1347-403C>G
XR_001743863.1:n.883-403C>G
XR_002956395.1:n.9132-403C>G
XR_002956396.1:n.3127-403C>G
NM_000426.4:c.8461G>C MANE Select	NP_000417.3:p.Gly2821Arg
NM_001079823.2:c.8449G>C	NP_001073291.2:p.Gly2817Arg