Canonical Allele Identifier: CA365634512

Gene: LAMA2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503281G>T , CM000668.2:g.129503281G>T	GRCh38
NC_000006.11:g.129824426G>T , CM000668.1:g.129824426G>T	GRCh37
NC_000006.10:g.129866119G>T	NCBI36
NG_008678.1:g.625141G>T , LRG_409:g.625141G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.612+1G>T	ENSP00000510626.1:n.612+1G>T
ENST00000498257.6:c.612+1G>T	ENSP00000510533.1:n.612+1G>T
ENST00000617695.5:c.8535+1G>T	ENSP00000481744.2:n.8535+1G>T
ENST00000618192.5:c.8811+1G>T	ENSP00000480802.2:n.8811+1G>T
ENST00000688198.1:n.1525+1G>T
ENST00000688799.1:c.612+1G>T	ENSP00000508458.1:n.612+1G>T
ENST00000690858.1:n.1541+1G>T
ENST00000693461.1:n.884+1G>T
ENST00000421865.3:c.8547+1G>T MANE Select	ENSP00000400365.2:n.8547+1G>T
ENST00000421865.2:c.8547+1G>T	ENSP00000400365.2:n.8547+1G>T
ENST00000617695.4:c.8535+1G>T	ENSP00000481744.1:n.8535+1G>T
ENST00000618192.4:c.8544+1G>T	ENSP00000480802.1:n.8544+1G>T
NM_000426.3:c.8547+1G>T , LRG_409t1:c.8547+1G>T	NP_000417.2:n.8547+1G>T
NM_001079823.1:c.8535+1G>T	NP_001073291.1:n.8535+1G>T
XM_005266981.2:c.8811+1G>T	XP_005267038.1:n.8811+1G>T
XM_005266982.2:c.8799+1G>T	XP_005267039.1:n.8799+1G>T
XM_011535820.1:c.8805+1G>T	XP_011534122.1:n.8805+1G>T
XR_942984.1:n.1461-490C>A
XR_942985.1:n.1325-490C>A
XM_005266981.3:c.8811+1G>T	XP_005267038.1:n.8811+1G>T
XM_005266982.3:c.8799+1G>T	XP_005267039.1:n.8799+1G>T
XM_011535820.2:c.8805+1G>T	XP_011534122.1:n.8805+1G>T
XM_017010851.2:c.8817+1G>T	XP_016866340.1:n.8817+1G>T
XM_017010852.1:c.6942+1G>T	XP_016866341.1:n.6942+1G>T
XR_001743859.1:n.3901-490C>A
XR_001743860.1:n.1180-490C>A
XR_001743861.1:n.1347-490C>A
XR_001743863.1:n.883-490C>A
XR_002956395.1:n.9132-490C>A
XR_002956396.1:n.3127-490C>A
NM_000426.4:c.8547+1G>T MANE Select	NP_000417.3:n.8547+1G>T
NM_001079823.2:c.8535+1G>T	NP_001073291.2:n.8535+1G>T