Canonical Allele Identifier: CA3994870

Gene: LAMA2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505238T>C , CM000668.2:g.129505238T>C	GRCh38
NC_000006.11:g.129826383T>C , CM000668.1:g.129826383T>C	GRCh37
NC_000006.10:g.129868076T>C	NCBI36
NG_008678.1:g.627098T>C , LRG_409:g.627098T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.651T>C	ENSP00000510626.1:p.Tyr217=
ENST00000498257.6:c.651T>C	ENSP00000510533.1:p.Tyr217=
ENST00000617695.5:c.8574T>C	ENSP00000481744.2:p.Tyr2858=
ENST00000618192.5:c.8850T>C	ENSP00000480802.2:p.Tyr2950=
ENST00000688198.1:n.1564T>C
ENST00000688799.1:c.651T>C	ENSP00000508458.1:p.Tyr217=
ENST00000690858.1:n.1580T>C
ENST00000693461.1:n.923T>C
ENST00000421865.3:c.8586T>C MANE Select	ENSP00000400365.2:p.Tyr2862=
ENST00000421865.2:c.8586T>C	ENSP00000400365.2:p.Tyr2862=
ENST00000617695.4:c.8574T>C	ENSP00000481744.1:p.Tyr2858=
ENST00000618192.4:c.8583T>C	ENSP00000480802.1:p.Tyr2861=
NM_000426.3:c.8586T>C , LRG_409t1:c.8586T>C	NP_000417.2:p.Tyr2862=
NM_001079823.1:c.8574T>C	NP_001073291.1:p.Tyr2858=
XM_005266981.2:c.8850T>C	XP_005267038.1:p.Tyr2950=
XM_005266982.2:c.8838T>C	XP_005267039.1:p.Tyr2946=
XM_011535820.1:c.8844T>C	XP_011534122.1:p.Tyr2948=
XR_942984.1:n.1461-2447A>G
XR_942985.1:n.1325-2447A>G
XM_005266981.3:c.8850T>C	XP_005267038.1:p.Tyr2950=
XM_005266982.3:c.8838T>C	XP_005267039.1:p.Tyr2946=
XM_011535820.2:c.8844T>C	XP_011534122.1:p.Tyr2948=
XM_017010851.2:c.8856T>C	XP_016866340.1:p.Tyr2952=
XM_017010852.1:c.6981T>C	XP_016866341.1:p.Tyr2327=
XR_001743859.1:n.3901-2447A>G
XR_001743860.1:n.1180-2447A>G
XR_001743861.1:n.1347-2447A>G
XR_001743863.1:n.883-2447A>G
XR_002956395.1:n.9132-2447A>G
XR_002956396.1:n.3127-2447A>G
NM_000426.4:c.8586T>C MANE Select	NP_000417.3:p.Tyr2862=
NM_001079823.2:c.8574T>C	NP_001073291.2:p.Tyr2858=