Canonical Allele Identifier: CA365634190

Gene: LAMA2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503199G>C , CM000668.2:g.129503199G>C	GRCh38
NC_000006.11:g.129824344G>C , CM000668.1:g.129824344G>C	GRCh37
NC_000006.10:g.129866037G>C	NCBI36
NG_008678.1:g.625059G>C , LRG_409:g.625059G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.531G>C	ENSP00000510626.1:p.Leu177Phe
ENST00000498257.6:c.531G>C	ENSP00000510533.1:p.Leu177Phe
ENST00000617695.5:c.8454G>C	ENSP00000481744.2:p.Leu2818Phe
ENST00000618192.5:c.8730G>C	ENSP00000480802.2:p.Leu2910Phe
ENST00000688198.1:n.1444G>C
ENST00000688799.1:c.531G>C	ENSP00000508458.1:p.Leu177Phe
ENST00000690858.1:n.1460G>C
ENST00000693461.1:n.803G>C
ENST00000421865.3:c.8466G>C MANE Select	ENSP00000400365.2:p.Leu2822Phe
ENST00000421865.2:c.8466G>C	ENSP00000400365.2:p.Leu2822Phe
ENST00000617695.4:c.8454G>C	ENSP00000481744.1:p.Leu2818Phe
ENST00000618192.4:c.8463G>C	ENSP00000480802.1:p.Leu2821Phe
NM_000426.3:c.8466G>C , LRG_409t1:c.8466G>C	NP_000417.2:p.Leu2822Phe
NM_001079823.1:c.8454G>C	NP_001073291.1:p.Leu2818Phe
XM_005266981.2:c.8730G>C	XP_005267038.1:p.Leu2910Phe
XM_005266982.2:c.8718G>C	XP_005267039.1:p.Leu2906Phe
XM_011535820.1:c.8724G>C	XP_011534122.1:p.Leu2908Phe
XR_942984.1:n.1461-408C>G
XR_942985.1:n.1325-408C>G
XM_005266981.3:c.8730G>C	XP_005267038.1:p.Leu2910Phe
XM_005266982.3:c.8718G>C	XP_005267039.1:p.Leu2906Phe
XM_011535820.2:c.8724G>C	XP_011534122.1:p.Leu2908Phe
XM_017010851.2:c.8736G>C	XP_016866340.1:p.Leu2912Phe
XM_017010852.1:c.6861G>C	XP_016866341.1:p.Leu2287Phe
XR_001743859.1:n.3901-408C>G
XR_001743860.1:n.1180-408C>G
XR_001743861.1:n.1347-408C>G
XR_001743863.1:n.883-408C>G
XR_002956395.1:n.9132-408C>G
XR_002956396.1:n.3127-408C>G
NM_000426.4:c.8466G>C MANE Select	NP_000417.3:p.Leu2822Phe
NM_001079823.2:c.8454G>C	NP_001073291.2:p.Leu2818Phe